Article
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
Brain : a journal of neurology - 1 Jan 2006
Cagnoli Claudia, Mariotti Caterina, Taroni Franco, Seri Marco, Brussino Alessandro, Michielotto Chiara, Grisoli Marina, Di Bella Daniela, Migone Nicola, Gellera Cinzia, Di Donato Stefano, Brusco Alfredo
Abstract excerpt
We describe a four-generation Italian family with a novel form of juvenile-onset, slowly progressive, autosomal dominant cerebellar ataxia. Eleven affected family members have been evaluated. The mean age at onset was 19.5 years with no evidence of anticipation. The first symptoms were invariably unbalanced standing and mild gait incoordination. Gaze-evoked nystagmus was prominent at onset, while patients with...
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