A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

被引：106

作者：

Gonzalez, Michael A. ^{[1
,2
]}

Feely, Shawna M. ^{[3
]}

Speziani, Fiorella ^{[1
,2
]}

Strickland, Alleene V. ^{[1
,2
]}

Danzi, Matt ^{[1
,2
]}

Bacon, Chelsea ^{[3
]}

Lee, Youjin ^{[4
]}

Chou, Tsui-Fen ^{[5
,6
]}

Blanton, Susan H. ^{[1
,2
]}

Weihl, Conrad C. ^{[4
]}

Zuchner, Stephan ^{[1
,2
]}

Shy, Michael E. ^{[3
]}

机构：

[1] Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA

[2] Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, Miami, FL 33136 USA

[3] Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA

[4] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[5] Harbor UCLA Med Ctr, Dept Paediat, Div Med Genet, Torrance, CA 90502 USA

[6] Los Angeles Biomed Res Inst, Torrance, CA 90502 USA

来源：

BRAIN | 2014年 / 137卷

关键词：

neuropathy; whole-exome sequencing; autophagy; hereditary motor and sensory neuropathies; neurodegeneration; PAGET-DISEASE; AAA-ATPASE; SUBTYPES; BONE;

D O I：

10.1093/brain/awu224

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Functional studies showed that the Glu185Lys variant impaired autophagic function leading to the accumulation of immature autophagosomes. VCP mutations should thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2.

引用

页码：2897 / 2902

页数：6

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