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Article

Three VCP Mutations in Patients with Frontotemporal Dementia.

Journal of Alzheimer's disease : JAD - 1 Jan 2018

Wong Tsz Hang, Pottier Cyril, Hondius David C, Meeter Lieke H H, van Rooij Jeroen G J, Melhem Shami, van Minkelen Rick, van Duijn Cornelia M, Rozemuller Annemieke J M, Seelaar Harro, Rademakers Rosa, van Swieten John C

Abstract excerpt

Valosin-containing protein (VCP) is involved in multiple cellular activities. Mutations in VCP lead to heterogeneous clinical presentations including inclusion body myopathy with Paget's disease of the bone, frontotemporal dementia and amyotrophic lateral sclerosis, even in patients carrying the same mutation. We screened a cohort of 48 patients with familial frontotemporal dementia (FTD) negative for MAPT, GRN,...

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Identifiers

PMID: 30103325
DOI: 10.3233/JAD-180301

Genes

VCP
GRN
MAPT

Variants

Provenance

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