WE MOVE
204 West 84th Street
New York, NY 10024
E-mail: wemove@wemove.org
wemove.org • mdvu.org
Stay Connected Research News Chat Discussion Forum Advocacy and Support Organizations Patient Meeting Calendar Movement Disorder Glossary Movement Disorders Virtual University Linkage Library
WE MOVE

Make a Donation
Ataxia
Bradykinesia
Choreoathetosis
Corticobasal Degeneration
Dyskinesias (Paroxysmal)
Dystonia
Essential Tremor
Hereditary Spastic Paraplegia
Huntington's Disease
Multiple System Atrophy
Myoclonus
Parkinson's Disease
Progressive Supranuclear Palsy
Restless Legs Syndrome
Rett Syndrome
Spasticity
Sydenham's Chorea
Tardive Dyskinesia
Tics
Tourette's Syndrome
Tremor
Wilson Disease
 

Spinocerebellar Ataxia 2 (SCA2)

Inheritance
Autosomal dominant, with anticipation.

Molecular genetics and pathogenesis
SCA 2 is due to an expanded CAG repeat in a coding region of the SCA2 gene, encoding ataxin-2, a protein of unknown function. Like the other dominant polyglutamine diseases, the toxic effect is believed to be primarily due to a gain of function of the mutated protein, rather than a lost function of the wild-type.

Clinical manifestations
Ataxia of limbs, gait, speech, eye movements; slowed eye movements; exaggerated or diminished reflexes; extrapyramidal signs, including parkinsonism, dystonia, action tremor, and myoclonus; mild cognitive impairment; peripheral neuropathy; REM sleep behavior disorder.

Treatment
Parkinsonism may be responsive to levodopa.

References
OMIM
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183090

Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet. 1997 Apr;60(4):842-50. PubMed ID: 9106530