Movement Disorders



Movement Disorders







Questions



1. A 68-year-old woman has had tremor in both arms for the past decade. The tremor makes it difficult for her to drink water from a cup without spilling and it affects her ability to perform many daily activities. Of late, she has noticed that the tremor is also present in her left hand when she is sitting and watching television at night. She makes an appointment with her neurologist and the neurologist notes a marked kinetic tremor in both arms; there is also a mild tremor at rest on the left but no bradykinesia or other signs of parkinsonism. The diagnosis is:


A. A mixed tremor disorder

B. Essential tremor

C. Essential tremor-Parkinson disease

D. Normal aging

E. Parkinson disease

View Answer

1. Answer B. (MN-76) The patient has classical features of essential tremor (ET) (ie, kinetic tremor). Tremor at rest, without other cardinal features of parkinsonism, occurs in approximately 20% of patients with ET attending a specialty clinic, but in contrast to that of parkinson disease (PD), it is a late feature and it has only been observed in the arm rather than the arm and leg. If the patient were to develop additional features of parkinsonism (eg, bradykinesia, rigidity), then the diagnosis of ET-PD (C) would be correct. E is not correct because the patient clearly has severe and longstanding kinetic tremor as her main clinical feature and there are no other signs of PD other than an isolated rest tremor. A is not correct because “mixed tremor disorder” is not a formal diagnostic category. D is not correct because the clinical features are beyond what is observed in normal aging.



2. A 57-year-old woman has had head tremor for 5 years. The tremor is of moderate severity. She sees a neurologist. On examination, the tremor in the head is the only feature and there is no arm tremor to speak of. The tremor is a horizontal tremor although there is a tendency for the tremor to be a little bit more in the right-ward direction. When she lies down on her back, the tremor continues. The diagnosis is:


A. Circadian tremor

B. Dystonia

C. Essential tremor (ET)

D. Familial tremor

E. Parkinson disease (PD)

View Answer

2. Answer B. (MN-76) Isolated neck tremor, with minimal or no accompanying arm tremor, is extremely rare and should raise suspicion that the diagnosis is dystonia rather than ET. Furthermore, the fact that the tremor is directional and that it continues while supine, is consistent with dystonia rather than ET. Head tremor is rare in PD and this patient has no other features of PD. Familial tremor is an older term for ET. Circadian tremor is incorrect because there is no such diagnosis.



3. A 77-year-old man notices that his right hand is a little shaky while holding a cup of coffee, of which he drinks five cups daily. He already has an appointment with his neurologist the following week, in order to discuss his chronic low back pain, and he points out the tremor. The neurologist notices a tremor with posture that involves the knuckles and fingers on the left. There is also some wrist involvement, in a rotational direction. There is no kinetic tremor. There is no bradykinesia or other signs of parkinsonism. There is also a mild jaw tremor when the patient’s mouth is closed. The correct diagnosis is:


A. Benign essential tremor

B. Caffeine-associated tremor

C. Dystonia

D. Essential tremor (ET)

E. Parkinson disease (PD)

View Answer

3. Answer E. (MN-76) Postural tremor involving the metacarpophalangeal joints rather than the wrist or elbow is more typical of PD than ET. Postural tremor involving the wrist and characterized by greater wrist rotation than wrist flexion-extension are both indicators that the likely diagnosis is emerging PD rather than ET. Furthermore, an isolated postural tremor (with minimal or no kinetic tremor) is a feature of PD rather than ET. Finally, jaw tremor with the mouth closed is a feature of PD rather than ET. Benign essential tremor is an old and outdated term for ET and it is no longer used. ET is associated with more kinetic than postural tremor and the postural tremor generally involves the elbow and/or wrist rather than the fingers. Dystonia is not the correct answer as there are no features of dystonic tremor (eg, directionality, null point). Caffeine-associated tremor typically involves the fingers, both with posture and during movement, and is not associated with a jaw tremor.




4. A 54-year-old woman has had ET for 5 years, is quite embarrassed by it, and it is making it difficult for her to work as an artist. She is ready to try medication. She had mild asthma in childhood without the need for an inhaler A neurologist had tried her on primidone about 2 years ago but she developed severe nausea and had to stop it after one dose. An acceptable approach for this patient is:


A. A trial of drinking one alcoholic beverage daily

B. A trial of either propranolol or primidone

C. A trial of primidone; propranolol would be contraindicated

D. A trial of propranolol; primidone would be contraindicated

E. No medication. Reassurance

View Answer

4. Answer B. (MN-76) Asthma is a relative contraindication to the use of propranolol but is not an absolute contraindication and must be assessed on a case-by-case basis. The patient’s asthma is mild. A supervised dose of a beta-blocker is an option. An acute nausea and/or ataxia is observed in approximately 25% of patients who are prescribed primidone, and preloading the patient with phenobarbital (eg, 30 mg twice a day [b.i.d.] for 3 days) is one method that is used to avoid this unwanted side effect. Hence, both of these choices would be reasonable to try. Choice A is not an ideal first-line medication therapy, although some patients report that moderate alcoholic beverage consumption does improve symptoms. Choice E is incorrect; the patient is ready to try medication and tremor is already embarrassing and causing functional difficulties.



5. A patient with new onset of kinetic tremor visits his doctor and the doctor diagnoses ET. Which of these statements about ET is correct?


A. A disease characterized by progressive kinetic tremor, and one that can run in families in an apparent autosomal dominant fashion

B. The disease is caused by a problem in the brainstem

C. The tremor is an isolated disease and is not related to risk of developing other progressive neurologic conditions

D. The tremor is benign and is not generally progressive

E. A and B are both correct

View Answer

5. Answer A. (MN-76) ET is a progressive disorder characterized primarily by kinetic tremor in the arms. The cardinal feature of ET is kinetic tremor, evidenced during a variety of activities on neurologic examination (eg, finger–nose–finger maneuver, spiral drawing). Established risk factors for ET include older age and family history of ET. Many families exhibit an autosomal dominant pattern of inheritance. Answer B is incorrect. The olivary model of ET, first proposed in the early 1970s, posited that a tremor pacemaker in the inferior olivary nucleus was driving the tremor in ET. However, there are major problems with this model, including the absence of direct empirical support and, therefore, there has been trend to move away from this model. In more recent years, mechanistic research on ET has focused more on the cerebellum and the role it seems to play in the biology of ET. Answer C is incorrect, as ET is associated with a 4-fold risk of developing Parkinson disease. Answer D is incorrect. Although in the past ET was often viewed as a “benign” problem, the term benign essential tremor is no longer considered appropriate. Indeed, the majority of patients have tremor-related disability, and 15% to 25% are sufficiently motorically disabled by high-amplitude shaking that they cannot continue to work.



6. An 8-year-old boy has a history of eye-blinking tics that began 18 months ago. He subsequently added other motor (facial grimacing, ocular deviations, heading jerking) and phonic (throat clearing, grunts, barks) tics that have had a fluctuating course. Additional history showed that he was started on methylphenidate at age 6 years for attention deficit hyperactivity disorder (ADHD) and 2 months prior to tic onset he had a streptococcal infection. Family history is positive for tics. His examination, other than having tics, is normal. His correct diagnosis is:


A. Chronic motor tic disorder

B. Other specified tic disorder attributed to the effects of methylphenidate

C. Pediatric autoimmune neuropsychiatric disorder associated with a streptococcal infection (PANDAS)

D. Provisional tic disorder

E. Tourette syndrome

View Answer

6. Answer E. (MN-77) Choice D is not correct. Provisional tics indicate that tics have been present for less than 1 year. Choice A is incorrect because chronic motor tic disorder indicates that only motor tics have been present for greater than 1 year. Tourette syndrome (choice E) requires an onset before age 18, the presence of multiple motor and at least one vocal tic, a waxing and waning course, a duration of longer than 1 year, and that tics are neither substance-induced nor due to a general medical condition. A positive family history for tics is present in about one-half of Tourette syndrome patients. Choice B is not correct; there is little scientific evidence to support the belief that stimulant medications are a precipitating agent for tics. Choice C is not correct. PANDAS is an extremely controversial disorder that requires the acute fulminant onset of symptoms and subsequent exacerbations associated with a recurrent streptococcal infection.



7. An 8-year-old-boy with the diagnosis of Tourette syndrome is being evaluated in the clinic. His parents inquire about the long-term prognosis of his tics. His father has persisting tics and the diagnosis of Tourette syndrome. Which of the following answers are correct?


A. For most individual’s tics peak in severity between 8 to 12 years of age

B. Outcome will likely parallel his father’s course

C. Tics typically decline in severity throughout the teenage to early adulthood years

D. A and B

E. A and C

View Answer

7. Answer E. (MN-77) Statistically, the maximum severity of tics tends to occur between 8 and 12 years of age, with tics declining in severity throughout the teenage to early adulthood years. An approximate rule of thirds suggests that during the latter period: one-third of tics disappear; one-third improve; and one-third continue to fluctuate. Choice B is incorrect. Hypotheses that adult tic severity is predictable by childhood tic severity, early fine motor skills, reduced MRI caudate volumes, or other factors require additional confirmation.




8. A 15-year-old girl is referred for a second opinion regarding “complex tics.” Tics began in early childhood and subsequently included facial grimacing, eye blinking, sustained mouth opening, kicking her buttocks, and obscene gestures. Vocal tics have included echolalia, palilalia, and coprolalia. Her tics are preceded by a premonitory urge that disappears when the activity was executed. Therapeutically she previously received treatment with a variety of tic-suppressing medications including pimozide, haloperidol, fluphenazine, risperidone, and is currently on aripiprazole. She also has the diagnoses of ADHD, obsessive-compulsive disorder (OCD), anxiety, and a mood disorder. She has been treated with various SSRIs and is followed by a psychiatrist. More recently, her movements are characterized by forcefully banging her right fist against the wall seven times, and then banging her left fist against the wall seven times. There is no preceding premonitory sense, but she feels that unless she performs the activity something will happen to her. She also reports an inability to suppress the activity until it feels “just right.” Which of the following best describes these more recent movements?


A. The described features favor the diagnosis of an obsessive-compulsive behavior

B. The movements may be a manifestation of an anxiety disorder

C. These episodes of banging are typical for complex tics

D. Either A or C is correct

E. Either B or C is correct

View Answer

8. Answer A. (MN-77) Clinically differentiating obsessive-compulsive behaviors (OCBs) from complex tics may be difficult. Clues that favor obsessive-compulsive symptoms include a cognitive-based drive (“unless I do this, something will happen”), need to perform the action in a particular fashion (ie, a specific number of times, until it feels “just right,” or equally on both sides of the body), and the absence of a premonitory urge. OCBs usually emerge during early adolescence, several years after the onset of tics, although an earlier age of onset has been suggested. A lifetime comorbid diagnosis of OCD is present in about 50% of patients with Tourette syndrome; symptoms typically becoming more severe at a later age. Obsessive-compulsive symptoms vary in patients with and without tics. Those associated with tics include counting, arranging, ordering, hoarding, touching, tapping, rubbing, checking for errors, and a higher frequency of aggressive, sexual, religious, and symmetry-related obsessions. In contrast, symptoms occurring in individuals without tics include cleaning rituals, compulsive washing, and fears of contamination. The presence of ADHD is claimed to mediate anxiety and disruptive behaviors, whereas individuals with comorbid OCD are more likely to have a mood disorder. Choice C is less likely for reasons stated above, and choice B is not correct because these features would be atypical for anxiety disorder.



9. An 11-year-old boy with Tourette syndrome reports persisting motor and vocal tics. He is receiving comments from his peers at school and has occasional headaches when his head jerks are severe. He is doing well academically, but has some inattentiveness and a few obsessive-compulsive behaviors. The family lives in a large metropolitan area. Your primary recommendation for tic suppression is:


A. Behavioral therapy

B. Continued observation

C. Herbal medicines

D. Magnesium

E. Omega-3 fatty acids

View Answer

9. Answer A. (MN-77) Specific criteria for initiating behavioral or pharmacologic tic-suppressing therapy include the presence of psychosocial problems (eg, loss of self-esteem; peer problems; difficulty participating in academic, work, family, social, and after-school activities), tic-induced musculoskeletal/physical difficulties, and disruption of classroom/work settings. Hence, choice B is not correct. Randomized blinded controlled trials have established the safety and efficacy of behavioral therapy, especially comprehensive behavoral intervention for tics (CBIT). Choices C, D, and E are incorrect because there is little supporting evidence for the use of complementary and alternative medications.



10. Three months after his last visit, the 11-year-old boy in the above question returns for a follow-up visit. He completed 10 weeks of comprehensive behavioral intervention for tics training with a qualified therapist, but his tics persist and are causing greater difficulties. In addition, his teachers report that he has become more inattentive and restless in the classroom. Your next recommendation is:


A. An alpha adrenergic agonist

B. Aripiprazole

C. Cannabidiol

D. Exposure and response prevention

E. Topiramate

View Answer

10. Answer A. (MN-77) In general, a two-tiered approach to the use of pharmacotherapy is recommended for treating tics. Tier-1 medications include alpha-adrenergic agonists and topiramate for milder tics, and tier-2 medications (typical and atypical antipsychotics [such as choice C] and VMAT-2 inhibitors) reserved for more difficult-to-control symptoms. Unlike topiramate (choice E), alpha-adrenergic agonists (clonidine and guanfacine) are indicated in this patient because of their beneficial effect on both the suppression of tics and treatment of ADHD. Several small studies and case reports have suggested that cannabinoids may have a beneficial effect on tics in patients with Tourette syndrome, however, sufficient evidence supporting its use is lacking. Choice D was not correct because exposure and response prevention share some similarities to habit reversal therapy, which was not beneficial.



11. The pathophysiology of restless legs syndrome (RLS) involves:


A. A hyper-functioning dopaminergic system

B. A hyper-functioning endogenous opioid system

C. An under-active glutamatergic system

D. An upregulated serotonin receptor density in subcortical nuclei

E. Elevated brain iron and ferritin

View Answer

11. Answer A. (MN-78) The dopaminergic system is hyper-functional in RLS, demonstrated by increased dopamine metabolites in the cerebrospinal fluid, increased tyrosine hydroxylase in pathological studies, and decreased dopamine binding capacity in PET studies. Choice E is incorrect because there is low brain iron and ferritin in RLS. MRI-based studies as well as neuropathologic studies have demonstrated low brain iron and ferritin in RLS, which appears to be the inciting pathological condition which results in the clinical syndrome of RLS. Choice C is incorrect—the glutamatergic system is overactive in RLS, shown by magnetic resonance spectroscopy, and is also suggested by the use of alpha-2 delta ligands to treat RLS. Choice D is not correct—specific changes in serotonin receptor density have not been established. Choice B is not correct—there is a hypo-functioning endogenous opioid system in RLS, demonstrated in pathological studies showing decreases beta-endorphin in the thalamus of the RLS brain.




12. Which of the following cannot be diagnosed after a diagnosis of RLS?


A. Akathisia

B. Nocturnal leg cramps

C. Periodic limb movement disorder

D. Positional discomfort

E. Radiculopathy pain

View Answer

12. Answer C. (MN-78) One cannot have both periodic limb movement disorder (PLMD) and RLS because having RLS precludes a PLMD diagnosis. Furthermore, PLMD is a clinically distinct entity that does not include having uncomfortable feelings in the legs. The other answer choices are RLS mimics: nocturnal leg cramps fulfill the initial four essential RLS criteria in that there is an urge to move, occurring at night, at rest, and improvement with movement. Unlike RLS, leg cramps are extremely painful and often affect specific muscles. Many with positional discomfort who are seen shaking their legs are thought to have RLS but often do not have a true urge to move. Radiculopathy pain can fulfill the initial four essential RLS criteria; however, it is often quite painful and occurs in specific muscles or locations. Akathisia is often seen with dopamine-blocking medications and occurs both day and night.



13. A 68-year-old woman reports a feeling of ants in her skin and an urge to move, which occurs most prominently at night when she gets into bed. This was successfully treated for 3 years with pramipexole, but over the past 6 months, the dose of pramipexole has been increased from 0.5 to 1.5 mg. Despite this increased dose, her RLS has intensified and is beginning to occur in the daytime and even in her arms. She has begun to drink a nightly glass of wine to help her sleep. This patient is suffering from:


A. A paradoxical worsening of RLS, which is caused by being on long-term dopaminergic therapy

B. A paradoxical worsening of RLS, which is caused by frequent alcohol intake

C. A paradoxical worsening of RLS, which occurs spontaneously in older patients with RLS

D. A transient worsening of RLS which spontaneously remits

E. Severe RLS with worsening as part of the natural course of her disease

View Answer

13. Answer A. (MN-78) Augmentation is a paradoxical worsening of RLS symptoms that is caused by being on long-term and often supratherapeutic doses of dopamine agonists. It does not occur spontaneously or episodically (choices C and D), such as exacerbations in multiple sclerosis. Augmentation is not caused by alcohol (choice B) and is the natural result of the disease (choice E).



14. A 36-year-old woman with a known history of RLS reports that recently her RLS has worsened and is occurring twice per week, whereas a month ago, she would experience RLS only once every 3 months. She reports that she has been started on a few new medications over the past 2 months. Which medication is most likely to be causing her RLS to worsen?


A. Bupropion

B. Clonazepam

C. Mirtazapine

D. Pregabalin

E. Tramadol

View Answer

14. Answer C. (MN-78) Mirtazapine worsens RLS as it has significant histamine-blocking properties. Bupropion does not worsen RLS because it does not affect the neurotransmitter serotonin. Tramadol and pregabalin can be used to treat RLS. Clonazepam can also be used to treat RLS as a second or third-line agent.



15. Restless legs syndrome is frequently diagnosed concomitantly with which of the following conditions?


A. Alzheimer dementia

B. Hepatic encephalopathy

C. Lupus

D. Multiple sclerosis

E. Sjögren syndrome

View Answer

15. Answer D. (MN-78) RLS occurs concomitantly with a number of conditions, including in up to 30% of persons with multiple sclerosis. It is seen in about 20% of Parkinson disease patients, commonly in end-stage renal disease, and is also often first experienced in pregnancy and affects pregnant women at a prevalence three times higher than in non-pregnant women. RLS may abate with delivery. There is no specific association between RLS and the other diseases listed.



16. While polysomnography is not required to diagnose RLS, it can at times be helpful in evaluating persons suffering from RLS. Which of the following findings on polysomnography is most specific for RLS?


A. Periodic limb movements during sleep

B. Periodic limb movements during wakefulness

C. Prolonged REM latency

D. Prolonged sleep latency

E. Reduced slow wave sleep

View Answer

16. Answer B. (MN-78) Periodic limb movements during wakefulness on some level are thought to reflect the urge to move and discomfort in RLS. Periodic limb movements during sleep occur in up to 80% of persons with RLS but are also commonly observed in persons with obstructive sleep apnea, Parkinson disease, stroke, and even in elderly without a clear co-morbid disorder. While prolonged sleep latency is common in RLS, this finding is not specific and occurs commonly in insomnia and even in obstructive sleep apnea. Prolonged REM latency is not a feature of RLS. While reduced slow-wave sleep can occur in RLS, it is a nonspecific finding and can also occur in persons with insomnia or sleep apnea.




17. Which of the following statements concerning dystonia is most accurate?


A. Dystonic movements are always accompanied by co-contraction of agonist and antagonist muscles

B. Dystonic movements are always associated with excessive contraction of certain muscles

C. Dystonic movements are always quite variable in appearance

D. Dystonic movements are always slow, stiff, and twisting

E. Dystonic movements are always uncomfortable

View Answer

17. Answer B. (MN-79) Muscle over-contraction is the defining characteristic of dystonia. Choice D is incorrect because dystonic movements are not always slow, stiff, and twisting. Some examples of faster and non-sustained movements include the excessive eye blinks of blepharospasm, the voice breaks of spasmodic dysphonia, dystonic tremor, and myoclonic dystonia. Choice A is not correct; Although co-contraction of antagonistic muscles may occur in some patients with dystonia, this is not a universal phenomenon. Choice C is not correct because dystonic movements are not random and variable. Instead, they are usually patterned and repetitive. Choice E is not correct because dystonic movements are not always uncomfortable.



18. A 13-year-old girl complains of difficulty walking that has worsened over the past 2 years. When she walks, her right foot twists inward and her thigh raises up higher than it should. The longer she walks, the worse it gets. The problem is worse each evening. She has no other neurological or medical history, and no other family members have neurological problems. Her examination reveals transient repeated intorsion of the foot with a high step when walking. The gait problem disappears when she walks backward. What is the first diagnosis that should be considered?


A. Cerebral palsy

B. Dopa-responsive dystonia

C. Dystonia associated with a pathological genetic variant in the TOR1A gene (DYT1 dystonia)

D. Psychogenic dystonia

View Answer

18. Answer B. (MN-79) This disorder typically arises in childhood or adolescence, often affects one limb, and has a characteristic diurnal pattern that is worse in the evenings. This disorder is important to consider first because it is readily treated. The patient should be offered a trial of levodopa. Genetic testing for dopa-responsive dystonia can be conducted if the response to levodopa is supportive. However, genetic testing should not be used to rule out dopa-responsive dystonia, since gene tests are sometimes unrevealing even for patients who are clearly dopa-responsive. TOR1A-related dystonia also frequently presents in a limb at this age, but diurnal worsening is not as prominent as in dopa-responsive dystonia. Considering the diagnosis of TOR1A-related dystonia first may lead to unnecessary and expensive genetic testing. Mild cerebral palsy can also affect one limb, but it usually presents earlier in childhood, and it does not typically worsen in later childhood or adolescence. The improvement in the gait when walking backwards may raise suspicion for a psychogenic disorder. However, improvement with walking backwards is typical of the dystonic gait.



19. A 64-year-old woman complains that her eyes will not stay open. The problem started 3 years ago without provocation, and it has slowly worsened over time. The problem is particularly bad in bright lights, and when she is stressed or fatigued. She has a history of hypertension and hyperlipidemia, but there is no history of other abnormal movements. The examination reveals excessive blinking and frequent forceful spasms of eye closure lasting 2 to 3 seconds. She reports no associated urge, and she cannot voluntarily suppress the movements. There are no abnormal movements of the rest of the face, and the remainder of her examination is normal. Bloodwork and brain MRI done by her primary care doctor were normal. What is the most likely diagnosis?


A. Blepharospasm

B. Eye tics

C. Meige syndrome

D. Myasthenia gravis

E. Oculogyric crisis

View Answer

19. Answer A. (MN-79) Blepharospasm typically arises in older adults and it is more frequent in women. It is often worsened by bright lights, stress, and fatigue. Laboratory testing, including brain MRI, is usually unrevealing. Myasthenia gravis may also present with difficulty keeping the eyes open, but the examination reveals ptosis due to eye weakness, not forceful eye spasms. Tics may also present with excessive eye blinking and eye spasms, but initial appearance of tics with no prior history in an older adult is unusual. In addition, tics typically have a premonitory sensation and they can be at least transiently suppressed. Meige syndrome typically involves blepharospasm along with dystonia of the lower face or jaw, sometimes also including the neck. Since these other regions are not involved on examination, this eponym is not appropriate here. Oculogyric crisis is an involuntary version of the eyes rather than movement of the eyelids.




20. A 36-year-old woman complains of involuntary abnormal movements affecting different areas of her body. They started abruptly the morning after she lost her job. Usually the movements affect her right leg, but sometimes both legs are involved. At other times, her arm or face are involved. Sometimes the movements bother her all day. At other times, the movements disappear for a few days or a few weeks. On examination, she demonstrated a stiff but rapid kicking movement of the right leg. Later, she demonstrated alternating kicking movements of both legs. She also had stiffening with a coarse jerky tremor of the hands during examination of finger and hand skills, but this disappeared when she used a pen to sign her name. Her condition should raise concern first for which of the following disorders:


A. Generalized dystonia

B. Huntington disease

C. Paroxysmal dyskinesia

D. Psychogenic dystonia

E. Tic disorder

View Answer

20. Answer D. (MN-79) Many features raise suspicion for psychogenic dystonia, including abrupt onset, inconsistent involvement of different body regions, inconsistent type of abnormal movement from kicking to stiffening to tremor, inconsistent duration of spells with unexplained remissions, and disappearance of some problems during distraction with writing. A history of psychiatric disorder is sometimes, but not always evident. Paroxysmal dyskinesia can also present with sudden episodes of varied abnormal movements. However, the abnormalities of paroxysmal dyskinesia are usually more stereotyped in both body region affected and type of abnormal movement. She has involvement of all limbs suggestive of generalized dystonia, but generalized dystonia requires involvement of the trunk. In addition, the movements of generalized organic dystonia are usually more patterned and consistent in body region affected and type of movement. Huntington disease is unlikely because of the sudden onset, age at onset, variable morphology of abnormal movements, and unexplained remissions. These are not tics as there is no premonitory sensation before the movements and relief after the movements.



21. Lesions of in which of the following regions may cause cervical dystonia?


A. Lateral pons

B. Medial medulla

C. Midbrain

D. Posterior limb of the internal capsule

View Answer

21. Answer C. (MN-79) Lesions of many anatomical structures may cause cervical dystonia, including the midbrain, cerebellum, putamen, and thalamus. However, the posterior limb of the internal capsule, the lateral pons, and the medial medulla are not among these structures. Historically, many types of dystonia were thought to be due to focal lesions of the basal ganglia, and particularly to the putamen. However, more recent studies have demonstrated that most types of dystonia, including focal cervical dystonia, may emerge following lesions of several different parts of the brain. The dystonias therefore are no longer regarded as basal ganglia disorders. Instead, they are regarded as motor network disorders.



22. A 48-year-old man complains of involuntary rotation of his head to the right, and soreness of the right posterior neck and right shoulder region. This problem started about 2 years ago, worsened for 6 months, and has since remained relatively stable. Bloodwork and MRI of the head and cervical spine were unrevealing. After counseling regarding the diagnosis, how should you begin with treatment for this patient?


A. An oral agent such as a muscle relaxant or an anticholinergic medication

B. Deep brain stimulation therapy

C. Intramuscular injection of affected muscles with botulinum toxin

D. Physical therapy to loosen the neck muscles

E. Spinal stimulation therapy

View Answer

22. Answer C. (MN-79) This patient has cervical dystonia. The botulinum toxins are considered the treatment of first choice for cervical dystonia. They have proven efficacy for suppressing abnormal head movements, reducing associated pain from neck muscle spasms, and improving quality of life. Although oral agents such as muscle relaxants and anticholinergics are commonly prescribed, none are FDA- or EMA-approved, and efficacy is typically limited. Physical therapy is often prescribed but provides relief for only a few days at most. Deep brain stimulation surgery is usually reserved for patients who fail more conservative interventions first. Spinal stimulation surgery is not used to treat cervical dystonia.



23. With the current classification system for all dystonias, which of the patients below would be considered to have combined dystonia, not isolated dystonia?


A. A patient with a pathological genetic variant in the THAP1 gene (DYT6 dystonia) causing segmental dystonia that combines involvement of the lower face, neck, larynx and one arm

B. A patient with a small ischemic lesion in the thalamus causing only focal twisting movements and postures of one hand, combined with a jerky dystonic hand tremor of the same hand

C. A patient with the combination of cervical dystonia along with dystonia of one leg (multifocal dystonia)

D. A patient with Wilson disease who has dystonia limited to one hand, tremor and bradykinesia of the same hand, and mild jaundice from liver disease

View Answer

23. Answer D. (MN-79) In the context of the classification system for dystonia, the term “isolated” refers only to whether or not the patient has dystonia as the sole problem. The term isolated does not refer to a single body region. More than one region may be involved with dystonia, as in segmental dystonia (choice A) or multifocal dystonia (choice C). Because tremor co-occurs in approximately 50% of patients with dystonia and is difficult to distinguish from “dystonic tremor”, the existence of tremor is permitted under the designated of “isolated” dystonia, as in the patient who had dystonia and dystonic tremor of one hand (choice B). The term “combined” refers to patients who have dystonia along with other related neurological defects such as Parkinsonism, epilepsy, or neuropathy.




24. Which of the following is true about hemifacial spasm (HFS)?


A. HFS is usually familial

B. Patients with HFS can have synchronous twitching in the orbicularis oculi and the depressor anguli oris on the same side

C. Patients with HFS can have twitching in the masseter muscle

D. Periods of eyelid closure are always very brief

E. Tongue dystonia is sometimes a component of HFS

View Answer

24. Answer B. (MN-80) Twitching and sustained eyelid closure are part of HFS and the contractions appear synchronous in all affected muscles. Choice D is not correct because when HFS is severe, there may be periods of sustained muscle contraction. Choice C is not correct—the masseter is innervated by cranial nerve V and is not involved in HFS. Familial HFS (choice A) is uncommon but has been described. Tongue movements (choice E) are not mediated by the facial nerve and are not a component of HFS.



25. Patients with HFS often have:


A. A blood vessel irritating cranial nerve VII at its root exit zone

B. A lesion in the ipsilateral parietal cortex

C. A preceding history of Bell palsy

D. Compression of the facial nerve in the stylomastoid foramen

E. Lesions in the neighborhood of the facial nerve nucleus in the brainstem

View Answer

25. Answer A. (MN-80) Root exit zone irritation is the most commonly associated site of contact causing HFS. Cortical damage (choice B) has not been associated with HFS. Facial nerve nucleus lesions and distal irritation of cranial nerve VII have been associated with HFS but that is rare (choices D and E). Synchronized muscle contraction on the side of the face with prior Bell palsy (choice C) is almost always synkinesis; this is a mimic of HFS.



26. Which of the following is the definitive treatment for HFS?


A. A course of oral steroids with prolonged taper

B. Botulinum toxin injections

C. Craniotomy and microvascular decompression

D. Deep brain stimulation

E. Medication

View Answer

26. Answer C. (MN-80) Microvascular decompression is a direct surgical treatment to remove the source of irritation from the facial nerve. Botulinum toxin injections are often first-line treatment in patients wishing to avoid surgery and can be effective, particularly for orbicularis oculi contractions. Medications are not highly effective, and steroids and deep brain stimulation are not used to treat HFS.



27. Which of the following can be difficult to differentiate from HFS?


A. Cranial dystonia

B. Motor tics

C. Spastic paretic hemifacial contracture

D. Synkinesis after Bell palsy

E. None of the above

View Answer

27. Answer E. (MN-80) Cranial dystonia usually is bilateral and consists of sustained muscle contractions. Synkinesis only happens when facial muscles are voluntarily contracted. Spastic paretic hemifacial contracture is usually unilateral but consists of sustained contractions, often with myokymia. Motor tics are typically associated with an inner sensation prior to the movements and the movements may be suppressed.



28. Which of the following is a likely consequence of botulinum toxin (BTX) injections for HFS?


A. Entropion of the upper lid

B. Marked benefit in spasms around the eye but development of lower facial weakness

C. Marked weakness of the levator palpebrae and inability to close the eye

D. Permanent weakness of the orbicularis oculi

E. Weakness of ocular adduction

View Answer

28. Answer B. (MN-80) Lower facial weakness at doses required to stop spasms is relatively common after BTX injections. Inability to close the eye (choice C) is extremely rare after BTX injections. Choice A is incorrect—lower, but not upper, lid entropion can happen after BTX injections. Permanent weakness (choice D) has never been observed after BTX injections. Oculomotor movements (choice E) are not at risk after BTX injections for HFS.



29. Which of the following is true about microvascular decompression?


A. A large majority of patients have long-term relief of spasms

B. During surgery, a metal cage is inserted to maintain the position of the facial nerve

C. During the surgery, a blood vessel is always found compressing the facial nerve

D. The surgery involves redirecting the seventh cranial nerve

E. When the surgery is successful, spasms disappear and never return

View Answer

29. Answer A. (MN-80) In large series of reported cases, a majority of patients have sustained relief from spasms. Choice E is not correct—return of spasms after microvascular decompression occurs in approximately 10% of patients. Choice D is incorrect because the surgery involves removing a blood vessel from the seventh cranial nerve: surgeons try to manipulate the nerve as little as possible. Choice C is incorrect—occasionally, no compression of the nerve is found. Choice B is incorrect—in decompression surgery, a soft sponge is inserted.




30. A 28-year-old man with asthma suffers from respiratory and cardiac arrest requiring endotracheal intubation and cardiopulmonary resuscitation. He stays in the intensive care unit for a week and is transferred to the regular ward with gradual recovery. During the recovery phase, he develops myoclonic jerks of bilateral arms and trunk which has gradually become worse over a year.

Which statement is correct about myoclonus in this patient?


A. Clonazepam is the first-line treatment of myoclonus in this patient

B. Myoclonus in this patient is classified as essential myoclonus

C. Negative myoclonus can be seen when he attempts to walk

D. The myoclonic jerks are likely more prominent at rest, compared with action

E. The myoclonic jerks originate from the spinal cord

View Answer

30. Answer C. (MN-81) The diagnosis is posthypoxic myoclonus (Lance-Adams syndrome). This form of myoclonus typically starts when patients gradually recover from an illness, and the myoclonic jerks can be worse over time. Thus, Lance-Adams syndrome is considered to be “chronic” posthypoxic myoclonus. There are usually both positive and negative myoclonus. One of the classic clinical features in posthypoxic myoclonus is “bouncing gait”: when standing or walking, there is intermittent negative myoclonus of the legs giving rise to intermittent knee flexion. Choice D is not correct—myoclonic jerks in posthypoxic myoclonus are typically more prominent with action, thereby impairing patients’ daily activities such as eating, drinking, or writing. Choice E is incorrect because posthypoxic myoclonus generally has a cortical origin. Therefore, the distal limbs are usually involved and myoclonic jerks are stimulus-sensitive. However, some patients may also have co-existing reticular reflex myoclonus that originates from brainstem. Choice B is incorrect because posthypoxic myoclonus is classified as symptomatic myoclonus (not essential) since it occurs secondary to a main disorder/etiology (hypoxic brain injury in this case). Given the cortical origin of posthypoxic myoclonus, the first-line treatment includes levetiracetam and valproic acid. Clonazepam (choice A) can also be added if myoclonic jerks remain uncontrolled but is usually not considered as first-line.



31. A 12-year-old girl is brought by her parents to the clinic for further evaluation. She had normal development in her early life. At age 9 years, the parents noticed jerking movements of the arms, trunk, and legs. A year later, she developed generalized tonic-clonic seizure which requires three antiepileptic medications including levetiracetam, zonisamide, and clonazepam to control. On examination, there are intermittent myoclonic jerks in bilateral arms, legs and trunk, more prominent with action. These myoclonic jerks are sensitive to tactile stimuli. Finger-to-nose test demonstrates mild overshoot dysmetria bilaterally. Gait is mildly wide-based.

Which of the following disorders are plausible in the differential diagnoses?


A. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

B. Myoclonic epilepsy with ragged red fibers (MERRF)

C. Unverricht-Lundborg disease

D. B and C

E. A and B

View Answer

31. Answer D. (MN-81) The clinical syndrome in this patient is progressive myoclonic epilepsy (PME). She has myoclonic jerks, along with history of epilepsy. Some patients with PME can have coexisting cerebellar features. The differential diagnoses of PME include Unverricht-Lundborg disease (due to EPM1 mutations), Lafora body disease (due to EPM2A or EPM2B[NHLRC1] mutations), neuronal ceroid lipofuscinosis (due to multiple mutations), myoclonic epilepsy with ragged red fibers (MERRF), sialidosis (due to NEU1 mutations), dentatorubral-pallidoluysian atrophy (DRPLA, due to CAG repeat expansion in the ATN1 gene), among others. Patients with MELAS can present with recurrent headache, stroke in the young without respect to typical vascular territories and myopathy, but not the PME syndrome. Thus, MELAS is not in the differential diagnoses of PME.



32. A 24-year-old woman presents with progressive imbalance for 6 weeks. She describes that she feels unsteady when walking, and sometimes has jerking of her trunk and bilateral arms when sitting, standing and walking. Examination reveals spontaneous bursts of rapid back-to-back saccades without intersaccadic interval. There are mild intermittent myoclonic jerks involving her trunk and bilateral upper extremities. Finger-to-nose test demonstrates overshoot dysmetria bilaterally. She is still able to walk independently, but with wide-based gait.

From which anatomical location does myoclonus in this patient originate?


A. Brainstem

B. Cerebral cortex

C. Peripheral nerve

D. Spinal cord

E. Thalamus

View Answer

32. Answer A. (MN-81) The diagnosis in this patient is opsoclonus-myoclonus ataxia syndrome (OMAS). The patient has subacute ataxia, along with myoclonus and opsoclonus characterized by bursts of rapid back-to-back saccades without intersaccadic interval. Due to opsoclonus, patients can also have oscillopsia. Overshoot dysmetria and wide-based gait are part of the cerebellar features. The pathophysiology of OMAS involves the brainstem and cerebellum; hence, choices B, C, D, and E are not correct. Opsoclonus is attributed to involvement of omnipause neurons in the pontine region or their input. Thus, it is important to obtain brain MRI with thin slices of the brainstem in order to search for structural lesions. If negative, then cerebrospinal fluid should be examined to search for infectious, postinfectious, or paraneoplastic etiologies. Oftentimes, no etiologies are found, and autoimmune etiology is presumed.



33. A 6-month-old boy has very low threshold to startle; he has an exaggerated startle reflex even with minor tactile or auditory stimuli. What electrophysiologic finding is most likely found in this patient?


A. Bereitschaftspotentials on back-averaged electroencephalography (EEG)

B. Enhanced C-reflex

C. Giant somatosensory-evoked potentials on somatosensory-evoked potential recording

D. Lack of habituation with repetitive stimuli

E. Spikes prior to the jerks on back-averaged EEG

View Answer

33. Answer D. (MN-81) The diagnosis is hyperekplexia or exaggerated startle which is most likely hereditary in this patient, given very early onset. The mutations are varied and involve the glycinergic synapses within the brainstem. Lack of habituation is a key electrophysiologic feature in hyperekplexia. In normal responses, jerks become less severe and less frequent clinically and electrophysiologically after repetitive stimuli, but, in hyperekplexia the jerks fail to habituate. However, in clinical practice, repetitive stimulation such as repeated nose tapping is not recommended, as this can lead to severe stiffness and respiratory depression. Choices B, C, and E are electrophysiologic features of cortical myoclonus. Bereitschaftspotentials or premovement potentials seen on back-averaged EEG, are present before voluntary movements and psychogenic myoclonus.




34. A 53-year-old man is referred to the neurology clinic for an evaluation of abnormal truncal movements. He describes that he has had spontaneous intermittent jerking of his trunk in the past 3 months. On examination, there are occasional spontaneous jerks characterized by truncal flexion. In addition, the truncal jerks can be induced after tapping his knee.

What is the next best step of management in this patient?


A. Cerebrospinal fluid (CSF) examination

B. Initiate intravenous immunoglobulin and/or pulse methylprednisolone

C. MRI of the brain

D. MRI of the whole spine

E. Reassure that no further workup is necessary and can be managed empirically

View Answer

34. Answer D. (MN-81) MRI of the whole spine. The diagnosis is propriospinal myoclonus, which is a form of spinal myoclonus. The other form of spinal myoclonus is spinal segmental myoclonus, which is not the diagnosis in this case. The classic clinical feature of propriospinal myoclonus is truncal jerking, which is typically flexion. Propriospinal myoclonus can be sensitive to tactile stimuli. However, the latency between stimuli and jerks is usually longer than that in cortical myoclonus, given slow conduction via the proposed propriospinal pathway. There have been studies showing that many patients with propriospinal myoclonus are indeed psychogenic or functional, based on the presence of Bereitschaftspotentials. Other studies reveal disruption of white matter tracts on diffusion tensor imaging. Although some patients have functional propriospinal myoclonus, the organic form of propriospinal myoclonus likely exists. Therefore a workup is advised, and choice E is not correct. It is wise to obtain MRI of the spine in any forms of spinal myoclonus in order to avoid missing any underlying structural lesions. Given the spinal origin of propriospinal myoclonus, brain MRI is not the appropriate test. Propriospinal myoclonus is not due to an autoimmune etiology, therefore CSF examination and immunotherapies are not required.



35. A 17-year-old man comes to the clinic for an evaluation of abnormal jerking movements. He has had jerking movements of his neck, bilateral shoulders, and arms for 2 years. He also has prominent anxiety and obsessive-compulsive behavior. He has been evaluated by multiple physicians including neurologists, and has been told that these may represent “psychogenic movement disorder.” He does not drink alcohol. There is no family history. On examination, there are occasional myoclonic jerks at rest involving his neck, bilateral shoulders, and proximal upper extremities. However, the jerks are much more prominent when he performs action with his arms especially writing or pouring water from a cup. When writing, mild dystonic posturing of his right hand is also observed. There are no cerebellar features.

Abnormalities in which genetic test are most likely to be found in this patient?


A. ATP1A3 gene

B. EPM1 (cystatin B) gene

C. PRKCG (spinocerebellar ataxia type 14) gene

D. SGCE (ε-sarcoglycan) gene

E. TOR1A (torsinA) gene

View Answer

35. Answer D. (MN-81) SGCE(ε-sarcoglycan) gene. The diagnosis is myoclonus-dystonia syndrome (also called DYT11 dystonia). This patient has classic clinical features of myoclonus-dystonia syndrome (See Video 81.3). In this disorder, myoclonic jerks are typically much more prominent than dystonia. Myoclonus usually involves neck, shoulder, and proximal arm regions, and is more prominent with action, especially when writing or pouring water. Patients with myoclonus-dystonia syndrome can have co-existing neuropsychiatric features including anxiety and obsessive-compulsive behavior. Myoclonus-dystonia syndrome is considered to be one of the alcohol-responsive movement disorders, in addition to essential tremor, posthypoxic myoclonus and spasmodic dysphonia. Several cases of myoclonus-dystonia syndrome are due to mutations in the SGCE gene encoding for ε-sarcoglycan protein. In SGCE-negative cases, other genes including KCTD17, TOR1A, among others, have been reported. Some patients with the TOR1A mutation (DYT1 dystonia) may have prominent jerking, called “myoclonic dystonia” by some. However, among patients with the myoclonus-dystonia phenotype, the TOR1A mutation is much less common than SGCE mutations. EPM1 (cystatin B) gene mutations are responsible for Unverricht-Lundborg disease, which typically presents with progressive myoclonic epilepsy. ATP1A3 mutations cause rapid-onset dystonia parkinsonism (DYT12 dystonia), as well as alternating hemiplegia of childhood and CAPOS (cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome. Some patients with ATP1A3 mutations can have phenotypes overlapping between these three. Spinocerebellar ataxia type 14 due to PRKCG mutations can have myoclonus, along with ataxia. However, this is unlikely in this patient who does not present with cerebellar features.



36. A 45-year-old woman presents with left facial twitching that has been gradually worsening during the past 6 months. Initially, she noticed the twitching of left lower eyelid and, soon after, of the left upper eyelid. The twitching tends to be worse when she speaks or looks at the computer screen for a long time. Stress or sleep deprivation will make the twitching worse. In the past 1 month, she has also noticed that there are upward pulling movements in the left corner of her mouth. The movements have become more frequent and cause social embarrassment. Her husband notices that the twitching persists during sleep. She denies previous history of head trauma or Bell palsy. Examination shows frequent clonic and tonic contraction of the left orbicularis oculi, zygomaticus complex, and frontalis. In resting position, her left eyebrow is higher than the right. When she puffs her cheek, there is also contraction of the left orbicularis oculi. Her brain MRI is unremarkable.

What is the most likely effective initial treatment for this patient?


A. Botulinum toxin injection

B. Clonazepam

C. Levetiracetam

D. Microvascular decompression

E. Sodium valproate

View Answer

36. Answer A. (MN-81) The diagnosis is hemifacial spasm, which is a form of peripheral myoclonus involving the facial nerve. Patients present with clonic or tonic contractions of facial nerve-innervated muscles, which typically start in the upper face, particularly orbicularis oculi. When the disease progresses, tonic or clonic contractions can spread to frontalis, zygomaticus complex, and platysma. The Babinski-2 (the other Babinski) sign characterized by elevation of the eyebrow on the affected side can be seen in hemifacial spasm. Hemifacial spasm is usually worse when speaking, so patients tend to be quiet. This is in contrast to blepharospasm (focal dystonia involving orbicularis oculi) where speaking can improve dystonia, in which patients tend to be talkative. Synkinesis refers to an abnormal co-contraction of muscles supplied by other nerves or nerve branches when one nerve is activated. For example, when this patient puffs his or her cheek, there is also co-contraction of the left orbicularis oculi. When present, synkinesis is evidence of aberrant regeneration of the nerve (the facial nerve, in case of hemifacial spasm) and provides indirect evidence of previous nerve injury. However, the majority of patients with hemifacial spasm do not have previous history of facial nerve trauma or Bell palsy. In clinical practice, brain MRI with thin slices and vascular studies of brainstem is recommended to exclude a structural lesion or vascular compression of the facial nerve. Botulinum toxin injection is the mainstay of hemifacial spasm treatment rather than oral medications (choices B, C, and E). Surgery (choice D) should be considered when medical options have not been effective.




37. A 35-year-old woman with a genetic diagnosis of spinocerebellar ataxia type 1 has been followed in ataxia clinic for 2 years. She has trouble walking up and down stairs, and she cannot run anymore. She still has a full-time job as an administrator. However, she has been reluctant to take on any type of exercise regimen for fear that this will worsen her ataxia. Which of the following best describes the role of exercise in this patient?


A. Aerobic exercise has been shown to be superior to balance exercise in ataxia patients

B. Coordinated training can provide long-term symptomatic benefits for patients with ataxia

C. Exercise is contraindicated in patients with ataxia because of risk of falls

D. Exercise may be only beneficial in nongenetic ataxia syndromes but has limited evidence in spinocerebellar ataxia type 1

E. There is strong evidence for intensive lower extremity weight training for ataxia

View Answer

37. Answer B. (MN-82) Exercise should be recommended in all patients with ataxia as a means to enhance their functional capacity. In animal models and in patients with ataxia, coordinated exercise regimens have been shown to enhance lifespan and provide long-term functional benefits, respectively. Exercise regimens should take an individual patient’s limitations into account (choice C), ataxia should not be considered a general contraindication to an exercise program. In fact, daily exercise is strongly encouraged. There is no clear evidence that the benefits of exercise are reserved to genetic versus nongenetic ataxia syndromes (choice D), and no evidence supports a specific plan for intensive lower extremity weight-based training (choice E) or whether aerobic exercise is superior to balance exercise (choice A).



38. In patients with gait ataxia, which of the following best describes how a cerebellar ataxia, as opposed to sensory neuropathy, can be distinguished as the main cause of symptoms?


A. Ataxia rarely develops after age 55; hence sensory neuropathy should be considered much more likely in the elder population

B. Cerebellar atrophy on MRI is seen in all patients with cerebellar ataxia

C. Dysarthria is uncommon in both conditions and should not be used as a diagnostic tool

D. Falls are not commonly encountered in sensory neuropathy syndromes

E. Nystagmus and abnormal saccades can be seen in cerebellar ataxia but not in sensory neuropathy syndromes

View Answer

38. Answer E. (MN-82) Gait ataxia can be seen from a cerebellar disorder or from profound sensory dysfunction as a result of sensory neuropathy. Gait changes are difficult to distinguish between these disorders. The presence of nystagmus and abnormal saccades (hypermetric or hypometric) can make the diagnosis of cerebellar syndrome more likely. The presence of dysarthria (scanning quality) can similarly make the diagnosis of a cerebellar syndrome more likely; therefore, choice C is incorrect. Choice D is incorrect—the presence or absence of falls is not a discriminating feature. Choice B is incorrect—the absence of cerebellar atrophy does not rule out a cerebellar ataxia syndrome since atrophy is often not present in the early stage in certain forms of ataxia, such as Friedreich ataxia. Choice A is not correct because several common causes of degenerative ataxia, including multiple system atrophy and idiopathic late-onset cerebellar ataxia, can be seen after age 55; therefore, age of symptom onset is not a reliable way to distinguish the cause of gait ataxia.



39. A 45-year-old woman presents with a 4-week history of progressive gait imbalance, with severe gait instability in the prior week, so that she is unable to walk without holding on to the walls. Her neurological examination shows cerebellar eye signs, axial and appendicular ataxia. A paraneoplastic ataxia is suspected and she is worked up with a CT of the chest/abdomen and pelvis, in addition to a whole body FDG-PET scan, both of which do not show evidence for a malignancy. Serum testing for anti-Yo antibodies comes back positive at a very high titer. Which of the following statements below most accurately reflects the scheme for monitoring for malignancy?


A. An occult malignancy may be detected up to 4 years after symptoms onset. Therefore, tumor surveillance at least annually

B. Monitoring is needed one more time in about 6 months, and if that is negative, this is an idiopathic ataxia

C. Monitoring is needed one or two more times, as this is an anti-Yo antibody associated ataxia

D. No further monitoring is needed as her FDG-PET scan was negative

E. No further monitoring is needed. She has an idiopathic late-onset ataxia

View Answer

39. Answer A. (MN-82) Anti-Yo associated ataxia is almost always associated with malignancies of the breast and ovary. Tumor surveillance every 6 months to a year is needed to identify an occult malignancy. Therefore, choices B, C, D, and E are incorrect.




40. A pair of siblings who are in their 20s and whose ataxia started in their mid-teens sees you in the clinic. They report having another healthy sibling, and parents in their early 50s with no symptoms. The neurological examination reveals square-wave-jerks on fixation, mild ataxic dysarthria, and appendicular ataxia. Reflexes are absent diffusely, in addition to significant loss of distal vibration and proprioception. In order to help make the diagnosis, you are considering neuroimaging. Which of the following statements most accurately reflects utility of imaging on this patient?


A. A CT of the abdomen is likely to show organomegaly

B. A CT scan of the head will show characteristic lesions in the basal ganglia that can confirm the diagnosis

C. An MRI of the brain is likely to be normal

D. An MRI of the brain is likely to show prominent cerebellar midline and hemispheric volume loss, with characteristic changes on susceptibility-weighted imaging in the dentate nuclei

E. It is imperative to get imaging of the cervical and thoracic spine as this may be diagnostic in these patients

View Answer

40. Answer C. (MN-82) The history suggests a recessively inherited ataxia. The loss of reflexes and proprioceptive loss suggests a diagnosis of Friedreich ataxia. An MRI of the brain in Friedreich ataxia is typically normal, with no cerebellar volume loss. Choices A, B, D, and E do not describe the radiographic findings found in patients with this disorder.



41. A 65-year-old man developed slurred speech, imbalance, and slowness of movements for 2 years. Now, he needs to walk with a walker. He also has symptoms of urinary urgency and sometimes incontinence. When he stands up, he often feels dizzy. His wife complains that he moves around during sleep. He has no family history of ataxia or balance problems. His brain MRI showed pontocerebellar atrophy. What is the most likely diagnosis?


A. Essential tremor

B. Multiple system atrophy

C. Parkinson disease

D. Progressive supranuclear palsy

E. Spinocerebellar ataxia

View Answer

41. Answer B. (MN-82) The combination of slowness in movements (parkinsonism) with autonomic symptoms and REM sleep behavior disorder, in addition to cerebellar ataxia, strongly suggests a diagnosis of multiple system atrophy. Pontocerebellar atrophy is typically seen in the brain MRI of patients with multiple system atrophy, cerebellar type. The hot cross bun sign may be associated with pontocerebellar atrophy. Choice C is incorrect—slurred speech, rapid decline in ability to ambulate, and the described radiographic findings are not typical features of Parkinson disease. Although mild gait ataxia can be a feature of essential tremor, the hallmark feature is kinetic tremor. The prominent autonomic signs are not a feature of spinocerebellar ataxia or progressive supranuclear palsy; the absence of extraocular motion abnormalities further argues against the latter.



42. A 35-year-old woman presents with imbalance and slurred speech. On neurological examination, she has hypermetric saccades, hyperreflexia throughout, dysmetria on finger-nose tests, and overshoot finger chase. She walks with variable stride length and a wide-based gait. Her mother and maternal uncle also suffer from similar balance problems starting in their early 30s. What type of genetic tests should be performed for this patient?


A. Copy number determination to assess deletion or duplication of genes

B. Muscle biopsy to assess mitochondrial genetic defects

C. Repeat expansion determination for all common spinocerebellar ataxia genes

D. SCA14 gene test

E. Whole exome sequencing

View Answer

42. Answer C. (MN-82) This patient has a family history of ataxia, following the pattern of autosomal dominant inheritance. Therefore, she is likely to have genetic mutations of spinocerebellar ataxia. The most common types of genetic mutations for spinocerebellar ataxias are repeat expansions, which cannot be detected reliably using whole-exome sequencing. Therefore, specific genetic tests to determine the repeat expansions for common spinocerebellar ataxia genes are most likely lead to a diagnosis. Choice D is not correct because SCA14 is only one example of a large list of cerebellar ataxia genes (see Table 11.42.1)—a broad workup of all possible genetic etiologies should be performed at this stage. Given the likelihood that the ataxia in this patient is due to a repeat expansion, neither choice A nor B is correct.







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Feb 1, 2026 | Posted by in NEUROLOGY | Comments Off on Movement Disorders

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