ataxia–oculomotor apraxia-1

Quick Reference

An early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminaemia. It is caused by mutation in the gene encoding aprataxin. A second locus associated with the disorder is known, although the gene involved has not yet been identified.

Subjects: Medicine and Health.

Reference entries