Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Mov Disord
; 28(4): 524-8, 2013 Apr.
Article
em En
| MEDLINE
| ID: mdl-23143971
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Female
/
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article