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A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia

✍ Scribed by Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; Friedrich Zimprich; Eduard Auff; Alexander Zimprich

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
115 KB
Volume
39
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

Mutations in the valosin‐containing protein (VCP) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the VCP gene in a German family. Family members presented with mild to moderate proximal muscle weakness, Paget disease of bone, and signs of early cognitive decline, with onset in the fourth decade. Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD. Muscle Nerve 39: 389–391, 2009

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