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Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2013 Apr; Vol. 28 (4), pp. 524-8. Date of Electronic Publication: 2012 Nov 09. - Publication Year :
- 2013
-
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.<br />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.<br />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.<br />Conclusions: The severe neurodegeneration resulting from loss of ATM can be mitigated in some circumstances.<br /> (Copyright © 2012 Movement Disorders Society.)
Details
- Language :
- English
- ISSN :
- 1531-8257
- Volume :
- 28
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 23143971
- Full Text :
- https://doi.org/10.1002/mds.25236