| Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. | |
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MedLine Citation:
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PMID: 20838030 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant frontotemporal dementia, although some patients present with parkinsonism. In a number of these cases the dominant clinical features have been consistent with a progressive supranuclear palsy (PSP) syndrome. OBJECTIVE: To describe a family with an autosomal dominant PSP syndrome with a novel L284R mutation in the MAPT gene. METHODS: A retrospective case review and genetic analysis of the MAPT gene. A literature review of PSP syndromes associated with mutations in the MAPT gene. RESULTS: Multiple members of family DRC292 across different generations had a PSP syndrome with 1 member of the family being found to have a novel L284R mutation in the MAPT gene. Behavioural features were also prominent in most cases. A PSP syndrome is only a rare finding associated with MAPT mutations and many of these cases have atypical clinical features. CONCLUSION: Although rare, MAPT mutations should be considered when there is an autosomal dominant family history of a PSP syndrome, particularly of young onset and with prominent behavioural features. |
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Authors:
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Jonathan D Rohrer; Dominic Paviour; Jana Vandrovcova; John Hodges; Rohan de Silva; Martin N Rossor |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-09-14 |
Journal Detail:
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Title: Neuro-degenerative diseases Volume: 8 ISSN: 1660-2862 ISO Abbreviation: Neurodegener Dis Publication Date: 2011 |
Date Detail:
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Created Date: 2011-03-30 Completed Date: 2011-07-19 Revised Date: 2012-03-01 |
Medline Journal Info:
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Nlm Unique ID: 101189034 Medline TA: Neurodegener Dis Country: Switzerland |
Other Details:
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Languages: eng Pagination: 149-52 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 S. Karger AG, Basel. |
Affiliation:
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Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Sequence Female Humans Male Middle Aged Molecular Sequence Data Mutation / genetics* Pedigree Retrospective Studies Supranuclear Palsy, Progressive / genetics* tau Proteins / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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G0501560(76517)//Medical Research Council; //Medical Research Council |
| Chemical | |
Reg. No./Substance:
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0/MAPT protein, human; 0/tau Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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