Huntington Disease Progressive; autosomal dominant; usually adult onset; with movement disorder (usually chorea), personality disorder, dementia. Pathology: generalized brain atrophy; striatum (caudate nucleus, putamen) most affected. Biochemistry: loss of striatal…
Hereditary Ataxias See Table 108.1 for list of disorders; Tables 108.2, 108.3 for clinical features and inheritance. Notes about selected conditions follow. Table 108.1 Hereditary Ataxias by Mode of Inheritance…
Alzheimer Disease and Other Dementias Definition of dementia (according to DSM-IV): “Multiple cognitive deficits that are sufficiently severe to cause impairment in occupational or social functioning.” Must involve memory plus…
Acquired Neuropathies Guillain-Barré Syndrome (GBS) and Variants Also “acute inflammatory demyelinating polyneuropathy.” Acute onset of peripheral and cranial nerve dysfunction. Frequently preceded by respiratory or gastrointestinal infection immunization, or surgery….
Hereditary Neuropathies Selected inherited neuropathies and their features listed in Table 105.1. Clinical classification in Table 105.2. Table 105.1 Inherited Neuropathies Disorder Locus/gene Inheritance Protein Testing method CMT1A 17p11.2/PMP22 AD…
General Considerations Definitions Peripheral neuropathy, polyneuropathy: diffuse lesions of peripheral nerves, manifest by weakness, sensory loss, autonomic dysfunction. Mononeuropathy: single nerve affected (trauma, entrapment). Mononeuropathy multiplex: two or more nerves…
Tuberous Sclerosis Complex Genetics and Incidence Autosomal dominant; often sporadic. 2 recognized genes: chromosomes 9 (TSC1: hamartin), 16 (TSC2: tuberin); both tumor suppressor genes. Incidence 1:10,000. Prevalence 1:10,000 to 1:170,000….
Incontinentia Pigmenti Incontinentia Pigmenti Clinical Features Cutaneous: linear vesicobullous lesions at birth, rarely as late as 1 year. Lesions change to linear verrucous and dyskeratotic growth. Pigmentary changes follow: slate-gray…
Encephalotrigeminal Angiomatosis Also called Sturge-Weber-Dimitri Syndrome. Symptoms and Signs Characteristic syndrome: cutaneous vascular port-wine nevus of the face, contralateral hemiparesis and hemiatrophy, glaucoma, seizures, mental retardation. Neurologic: epilepsy most common…
Neurofibromatosis Cardinal features: multiple pigmented birthmarks on skin (“café-au-lait” spots), multiple neurofibromas. Two forms: neurofibromatosis type 1 (NF-1; von Recklinghausen disease, peripheral neurofibromatosis), neurofibromatosis type 2 (NF-2; central neurofibromatosis, bilateral…
