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

Autor: 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
Rok vydání: 2012
Předmět:
Zdroj: Movement Disorders. 28:524-528
ISSN: 0885-3185
DOI: 10.1002/mds.25236
Popis: 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
Databáze: OpenAIRE