title: Spinocerebellar ataxia type 20.
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.
authors.affiliation: Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Australia. elsdon.storey@med.monash.edu.au
authors.forename: Elsdon
authors.initials: E
authors.lastname: Storey
authors.forename: R J McKinlay
authors.initials: RJ
authors.lastname: Gardner
mesh_terms: D017668:Age of Onset; D003937:Diagnosis, Differential; D006801:Humans; D059906:Neuroimaging; D013049:Spectrin / Q000235:genetics*; D013064:Speech Disorders / Q000209:etiology; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics / Q000473:pathology
chemical_list: C495133:SPTBN2 protein, human; D013049:Spectrin