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Beta-mannosidosis: A new cause of spinocerebellar ataxia

✍ Scribed by Pierre Labauge; Dimitri Renard; Giovanni Castelnovo; Frédérique Sabourdy; Nicolas de Champfleur; Thierry Levade

Book ID
116369480
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
180 KB
Volume
111
Category
Article
ISSN
0303-8467

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## Abstract The autosomal dominant ataxias (ADA) are a diverse group of multisystem, neurodegenerative disorders characterized by mutations at several chromosomal loci (SCA types 1–5, SCA type 7, DRPLA). We excluded all the known SCA loci by mutational and linkage analyses in an American family of