Novel valosin-containing protein mutations associated with multisystem proteinopathy

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http://hdl.handle.net/10138/300969

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Al-Tahan , S , Al-Obeidi , E , Yoshioka , H , Lakatos , A , Weiss , L , Grafe , M , Palmio , J , Wicklund , M , Harati , Y , Omizo , M , Udd , B & Kimonis , V 2018 , ' Novel valosin-containing protein mutations associated with multisystem proteinopathy ' , Neuromuscular Disorders , vol. 28 , no. 6 , pp. 491-501 . https://doi.org/10.1016/j.nmd.2018.04.007

Title: Novel valosin-containing protein mutations associated with multisystem proteinopathy
Author: Al-Tahan, Sejad; Al-Obeidi, Ebaa; Yoshioka, Hiroshi; Lakatos, Anita; Weiss, Lan; Grafe, Marjorie; Palmio, Johanna; Wicklund, Matt; Harati, Yadollah; Omizo, Molly; Udd, Bjarne; Kimonis, Virginia
Contributor: University of Helsinki, Medicum
Date: 2018-06
Language: eng
Number of pages: 11
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/300969
Abstract: Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p.A160P); c.383G > C (p.G128A); and c.382G > T (p.G128C). Clinical features included myopathy, PDB, ALS and Parkinson's disease though frontotemporal dementia was not an associated feature in these families. One of the patients was noted to have severe manifestations of PDB and was suspected of having neoplasia. There were wide inter- and intra-familial variations making genotype-phenotype correlations difficult between the novel mutations and frequency or age of onset of IBM, PDB, FTD, ALS and Parkinson's disease. Increasing awareness of the full spectrum of clinical presentations will improve diagnosis of VCP-related diseases and thus proactively manage or prevent associated clinical features such as PDB. (C) 2018 Published by Elsevier B.V.
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
VCP
p97
Inclusion body myopathy
Paget's disease of bone
Parkinson's disease
Novel VCP mutations
INCLUSION-BODY MYOPATHY
FRONTOTEMPORAL LOBAR DEGENERATION
AMYOTROPHIC-LATERAL-SCLEROSIS
AAA-ATPASE CDC48/P97
PAGET-DISEASE
GENE-MUTATIONS
VCP MUTATIONS
ENDOPLASMIC-RETICULUM
PARKINSONS-DISEASE
DEMENTIA IBMPFD
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