Hereditary and Acquired Spastic Paraplegia



Hereditary and Acquired Spastic Paraplegia





Hereditary Spastic Paraplegia

Multiple inherited syndromes with prominent progressive leg weakness and spasticity. Complicated forms accompanied by additional clinical findings (Table 118.1).


Genetics

Genetically heterogeneous. Affected proteins identified for several forms.



  • Autosomal dominant spastic paraplegias: SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19.


  • Autosomal recessive: SPG5, SPG7, SPG11, SPG14, SPG15, SPG20, SPG21.


  • X-linked recessive: SPG1, SPG2, SPG16.

See Table 118.1.


Clinical Features

Symptom-onset in childhood or adolescence. Spastic gait disorder; weakness may not be detectable. Sometimes starts in arms or hands. Usually overactive tendon reflexes, Babinski signs, clonus. Sensation usually normal.


Laboratory Data

Sensory evoked potentials may be abnormal. Magnetic stimulation of brain: abnormal central motor conduction.


Diagnosis

Clinical, family data. Genetic testing for several forms.









Table 118.1 Classification of the Hereditary Spastic Paraplegias

































































































































Syndrome group Syndrome Inheritance MIM no.
Pure Spastic Paraplegia Autosomal dominant pure spastic paraplegias AD 186200,
182601,
600363,
607152,
603563,
605280,
604805
  Autosomal recessive pure spastic paraplegia AR 270800
Complicated spastic paraplegia with Amyotrophy of hands (Silver syndrome) AD 270685
  Mental retardation, motor neuropathy AR 605229
  Thin corpus callosum, mental retardation, dysarthria AR 604360
  Retinal degeneration AR 270700
  CNS white matter abnormality or uncomplicated XL 312920
  Spastic dysarthria and pseudobulbar signs AR 248900
  Mitochondrial abnormalities or uncomplicated AR 607259
  Amyotrophy of hands, Troyer syndrome AR 275900
  Myoclonic epilepsy   270805
  Dementia, Mast syndrome   248900
  Peroneal muscular atrophy AD 600361
  Mental retardation, aphasia, adducted thumbs XL 303350
  Aphasia, poor vision, mental retardation XL 30266
  Amyotrophy, juvenile primary lateral sclerosis AR 606353
  Adrenomyeloneuropathy   300100
  Ichthyosis, mental retardation, retinopathy (Sjögren-Larsson syndrome)   270200
  Ataxia, Charlevoix-Saguenay syndrome AR 270550
  Pigmentary macular degeneration, mental retardation   270950
  Optic atrophy   182830
  Hypopigmentation   270750
  Deafness, nephropathy   182690
  Dementia (prion protein)   176640
MIM, Mendelian inheritance in man catalog; AD, autosomal dominant; AR, autosomal recessive; XL, X-linked.

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Jul 27, 2016 | Posted by in NEUROLOGY | Comments Off on Hereditary and Acquired Spastic Paraplegia

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