Article
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
Cerebellum (London, England) - 1 Jan 2008
Mariotti Caterina, Brusco Alfredo, Di Bella Daniela, Cagnoli Claudia, Seri Marco, Gellera Cinzia, Di Donato Stefano, Taroni Franco
Abstract excerpt
We have recently mapped the spinocerebellar ataxia type 28 (SCA28) locus on chromosome 18p11.22 in a four-generation Italian family. The clinical phenotype in affected individuals of this family was characterized by juvenile onset, slowly progressive gait and limb ataxia, dysarthria, hyperreflexi...
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