| A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes. | |
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MedLine Citation:
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PMID: 21387114 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Mutations in valosin-containing protein (VCP) are associated with a syndromic constellation of inclusion body myositis, Paget's disease of bone and frontotemporal dementia. Here we describe the case reports of two patients with a novel variation (p.I27V) in the VCP gene that was not identified in a healthy control population. One patient presented with a frontotemporal dementia syndrome associated with raised serum alkaline phosphatase and a family history of progressive muscle disease and behavioural decline, while the second patient presented with isolated progressive dysarthria. Together these cases suggest a potential for the same VCP mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of VCP-associated disease. |
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Authors:
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Jonathan D Rohrer; Jason D Warren; David Reiman; James Uphill; Jonathan Beck; John Collinge; Martin N Rossor; Adrian M Isaacs; Simon Mead |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-9 |
Journal Detail:
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Title: Journal of neurology Volume: - ISSN: 1432-1459 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-9 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Dementia Research Centre, Institute of Neurology, Queen Square, London, WC1N 3BG, UK, rohrer@dementia.ion.ucl.ac.uk. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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