Article
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
BMC medical genetics - 16 Feb 2011
Bohlega Saeed A, Shinwari Jameela M, Al Sharif Latifa J, Khalil Dania S, Alkhairallah Thamer S, Al Tassan Nada A
Abstract excerpt
BACKGROUND: Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). Patients are mainly characterized by cerebellar ataxia and oculomotor apraxia. Although these forms are not quite distinctive phenotypically, different genes have been...
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