Article
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Archives of neurology - 1 Jul 2008
Anheim Mathieu, Fleury Marie-Celine, Franques Jerome, Moreira Maria-Ceu, Delaunoy Jean-Pierre, Stoppa-Lyonnet Dominique, Koenig Michel, Tranchant Christine
Abstract excerpt
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (AFP) serum level, and occasional oculomotor apraxia. OBJECTIVE: To describe the clinical and molecular findings of 7 patients with a clinical presentation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.