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Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

✍ Scribed by J. Vale; P. Bugalho; I. Silveira; J. Sequeiros; J. Guimarães; P. Coutinho

Book ID: 111066088
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 90 KB
Volume: 17
Category: Article
ISSN: 1351-5101
DOI: 10.1111/j.1468-1331.2009.02757.x

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## Abstract Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the __puratrophin‐1__ gene was found to be associated with one type of A