Spinocerebellar ataxia type 20

Elsdon Storey, R. J.Mckinlay Gardner

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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.

Original languageEnglish
Pages (from-to)567-573
Number of pages7
JournalHandbook of Clinical Neurology
Volume103
DOIs
Publication statusPublished - 2011

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