Spinocerebellar ataxia 12
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 98762
Definition
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Epidemiology
Prevalence is unknown. Approximately 40 families have been reported.
Clinical description
The age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.
Etiology
Like SCA8 the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32.
Prognosis
Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Minneapolis, MN, 55426, United States Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: naf@ataxia.org Url: https://ataxia.org/ Name: euro-ATAXIA (European Federation of Hereditary Ataxias) Url: https://www.euroataxia.org/ Name: Ataxia UK 12 Broadbent Close
London, N6 5JW, United Kingdom Phone: 020 7582 1444 Toll Free: 0845 644 0606 (Helpline) Email: helpline@ataxia.org.uk Url: https://www.ataxia.org.uk/
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