Abstract
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.
Original language | English |
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Pages (from-to) | 524-528 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 28 |
Issue number | 4 |
DOIs | |
Publication status | Published - Apr 2013 |
Keywords
- Ataxia telangiectasia
- ATM
- Neurodegeneration
ASJC Scopus subject areas
- Clinical Neurology
- Neurology