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
PF Worth, V Srinivasan, A Smith, JI Last, LL Wootton, PM Biggs, NP Davies, EF Carney…
Movement Disorders, 2013•Wiley Online LibraryBackground 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 …
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 ATM gene was sequenced. Skin fibroblasts and a lymphoblastoid cell line (LCL) were assayed for ATM protein expression and kinase activity.
Results
Patient A‐T210 showed mild chorea, dystonia, and gait ataxia, walked independently, and drove a car. LCL and skin fibroblasts were radiosensitive and did not express ATM protein. Two ATM‐null mutations were identified.
Conclusions
The severe neurodegeneration resulting from loss of ATM can be mitigated in some circumstances. © 2012 Movement Disorder Society
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