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A new dominantly inherited pure cerebellar ataxia, SCA 30

Storey, E; Bahlo, Melanie; Fahey, M; Sisson, O; Lueck, C J; Gardner, R J M


BACKGROUND The spinocerebellar ataxias (SCAs) are clinically and genetically heterogeneous. Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs continue to be delineated. We describe a new disorder: SCA 30. METHODS An Australian family of Anglo-Celtic ethnicity manifested a relatively pure, slowly evolving ataxia. Six affected and four unaffected members were personally examined in a...[Show more]

CollectionsANU Research Publications
Date published: 2008-11-07
Type: Journal article
Source: Journal of Neurology, Neurosurgery & Psychiatry
DOI: 10.1136/jnnp.2008.159459


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