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