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Spinocerebellar ataxia type 23
Disease definition
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
ORPHA:101108
Classification level: DisorderSummary
Epidemiology
This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years.
Clinical description
The clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes.
Etiology
SCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.
Prognosis
Prognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2011, pdf)
- Review article
- English (2011)
- Clinical genetics review
- English (2022)
Additional information