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Neurology. 2004 Jan 27;62(2):327-9.

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

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  • 1Department of Neurology, University of Tübingen, Germany.


The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.

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