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Article

Valosin-containing protein gene mutations: clinical and neuropathologic features.

Neurology - 22 Aug 2006

Guyant-Maréchal L, Laquerrière A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frébourg T, Hannequin D, Campion D

Abstract excerpt

BACKGROUND: Hereditary inclusion body myopathy (IBMPFD) with Paget disease of bone (PDB) and frontotemporal dementia (FTD) is a rare multisystem disorder with autosomal dominant inheritance. Recently, missense mutations in the gene encoding valosin-containing protein (VCP) have been found in individuals with IBMPFD. VCP/P97, which exerts a variety of cellular functions, plays a key role in the...

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Identifiers

PMID: 16790606
DOI: 10.1212/01.wnl.0000225184.14578.d3

Genes

VCP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Valosin-containing protein gene mutations: clinical and neuropathologic features.PMID 16790606Read ↗

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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.Semantic proximity Read ↗

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and boneSemantic proximity Read ↗

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The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.Semantic proximity Read ↗

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