Published in:
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
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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.