Abstract
Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cerebellar Ataxia / genetics
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Genetic Predisposition to Disease / genetics*
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Humans
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Male
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Mutation / genetics*
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Polymorphism, Single Nucleotide / genetics
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Ubiquitin-Protein Ligases / genetics*
Substances
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STUB1 protein, human
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Ubiquitin-Protein Ligases
Supplementary concepts
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Autosomal Recessive Cerebellar Ataxia Type 1