Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia

Paul F. Worth, Venkataramanan Srinivasan, Anna Smith, James I. Last, Laura L. Wootton, Paul M. Biggs, Nicholas P. Davies, Ellen F. Carney, Philip J. Byrd, A. Malcolm R Taylor*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    24 Citations (Scopus)


    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 languageEnglish
    Pages (from-to)524-528
    Number of pages5
    JournalMovement Disorders
    Issue number4
    Publication statusPublished - Apr 2013


    • Ataxia telangiectasia
    • ATM
    • Neurodegeneration

    ASJC Scopus subject areas

    • Clinical Neurology
    • Neurology


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