Article
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2013
Worth Paul F, Srinivasan Venkataramanan, Smith Anna, Last James I, Wootton Laura L, Biggs Paul M, Davies Nicholas P, Carney Ellen F, Byrd Philip J, Taylor A Malcolm R
Abstract excerpt
BACKGROUND: The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and increased cellular radiosensitivity. We report an unusual case of A-T in a 41-year-old mother, A-T210, who had very mild neurological symptoms despite...
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