期刊
MOVEMENT DISORDERS
卷 28, 期 4, 页码 524-528出版社
WILEY
DOI: 10.1002/mds.25236
关键词
ataxia telangiectasia; ATM; neurodegeneration
资金
- Cancer Research UK
- Ataxia Telangiectasia Society
- Cancer Research UK [14346] Funding Source: researchfish
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. (c) 2012 Movement Disorder Society
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