Document Detail

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
MedLine Citation:
PMID:  23143971     Owner:  NLM     Status:  Publisher    
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.
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
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-9
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  -     ISSN:  1531-8257     ISO Abbreviation:  Mov. Disord.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Movement Disorder Society.
Department of Neurology, Norfolk and Norwich University Hospital, Norwich, United Kingdom.
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