Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia
PF Worth, V Srinivasan, A Smith, JI Last… - Movement …, 2013 - Wiley Online Library
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 complete loss of ATM protein. Methods A
neurological examination was performed, cellular radiosensitivity was assessed, and the …
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 complete loss of ATM protein. Methods A
neurological examination was performed, cellular radiosensitivity was assessed, and the …
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