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01-08-2011 | Original Communication

A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

Authors: Jonathan D. Rohrer, Jason D. Warren, David Reiman, James Uphill, Jonathan Beck, John Collinge, Martin N. Rossor, Adrian M. Isaacs, Simon Mead

Published in: Journal of Neurology | Issue 8/2011

Abstract

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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Title: A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
Authors: Jonathan D. Rohrer
Jason D. Warren
David Reiman
James Uphill
Jonathan Beck
John Collinge
Martin N. Rossor
Adrian M. Isaacs
Simon Mead
Publication date: 01-08-2011
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 8/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-011-5966-4

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A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

Abstract

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Abstract

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