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Type 1 Ataxia With Oculomotor Apraxia With Aprataxin Gene Mutations in Two American Children

Department of Pediatrics and Neurology The Ohio State University, ctsao{at}chi.osu.edu.

George Paulson, MD

Department of Neurology The Ohio State University Columbus, Ohio

Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia. (J Child Neurol 2005;20:6190—620).

Journal of Child Neurology, Vol. 20, No. 7, 619-620 (2005)
DOI: 10.1177/08830738050200071701


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