Spinocerebellar Ataxia-Type 3

Spinocerebellar ataxia-type 3 (SCA3) or Machado-Joseph disease (MJD) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction, and movement disorder. It is the most common SCA with a worldwide distribution and, contrary to early reports, is not limited to individuals of Azorean ancestry. MJD/SCA3 is caused by CAG repeat expansion mutations in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Expanded CAG repeat lengths correlate with the range and severity of clinical manifestations and inversely correlate with age of disease onset. These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.