Article
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Neurogenetics - 1 Jan 2007
Bassuk A G, Chen Y Z, Batish S D, Nagan N, Opal P, Chance P F, Bennett C L
Abstract excerpt
Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor. Both patients share Senataxin mutations N603D and Q653K in cis (N603D-Q653K),...
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