Orphanet: Spinocerebellar ataxia type 23

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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: Disorder

Synonym(s):
- SCA23
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adult
ICD-10: G11.2
OMIM: 610245
UMLS: C1853250
MeSH: C537201
GARD: 9950
MedDRA: -

Summary

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.

Expert reviewer(s): Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)

Detailed information

General public

Article for general public
Svenska (2021) - Socialstyrelsen

Disease review articles

Review article
English (2011) - Orphanet J Rare Dis

Clinical genetics review
English (2022) - GeneReviews

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