Article
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Brain : a journal of neurology - 1 Apr 2004
Le Ber Isabelle, Bouslam Naïma, Rivaud-Péchoux Sophie, Guimarães João, Benomar Ali, Chamayou Céline, Goizet Cyril, Moreira Maria-Ceù, Klur Sandra, Yahyaoui Mohamed, Agid Yves, Koenig Michel, Stevanin Giovanni, Brice Alexis, Dürr Alexandra
Abstract excerpt
Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (AFP) levels. We have evaluated 77 families with progressive non-Friedreich ARCA and have identified six families with a phenotype suggestive of AOA2. Linkage was confirmed in...
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