Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24719489.
- Also identified by DOI 10.1212/WNL.0000000000000416.
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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.
Medical subject headings
- Genetic Predisposition to Disease
- Mutation
- Ubiquitin-Protein Ligases