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Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3.

Spinocerebellar ataxia type 20.

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  • 1Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Australia. elsdon.storey@med.monash.edu.au

Abstract

Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. It is characterized by dentate calcification from an early stage of the illness. Dysarthria without ataxia is the first symptom in the majority - an unusual feature amongst the SCAs. In addition to ataxia, examination often reveals spasmodic dysphonia and palatal tremor, but the syndrome is otherwise fairly pure. The responsible genetic abnormality has been tentatively identified as a 260-kb duplication in the pericentric region of chromosome 11, but confirmation will necessarily await description of further families.

2012 Elsevier B.V. All rights reserved.

[PubMed - indexed for MEDLINE]
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