Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

被引：89

作者：

Haubenberger, D

Bittner, RE

Rauch-Shorney, S

Zimprich, F

Mannhalter, C

Wagner, L

Mineva, I

Vass, K

Auff, E

Zimprich, A

机构：

[1] Med Univ Vienna, Dept Neurol, Vienna, Austria

[2] Med Univ Vienna, Neuromuscular Res Dept, Ctr Anat & Cell Biol, Vienna, Austria

[3] Med Univ Vienna, Inst Med & Chem Lab Diagnost, Vienna, Austria

[4] Med Univ Vienna, Dept Med 3, Vienna, Austria

[5] Ludwig Boltzmann Inst Neuromuscular Dis, Vienna, Austria

来源：

NEUROLOGY | 2005年 / 65卷 / 08期

关键词：

D O I：

10.1212/01.wnl.0000180407.15369.92

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G > A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.

引用

收藏

页码：1304 / 1305

页数：2

相关论文

共 10 条

[1] Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms [J].

Askanas, V ;

Engel, WK .

CURRENT OPINION IN NEUROLOGY, 2002, 15 (05) :525-531

[2] Valosin-containing protein is a multiubiquitin chain targeting factor required in ubiquitin-proteasome degradation [J].

Dai, RM ;

Li, CCH .

NATURE CELL BIOLOGY, 2001, 3 (08) :740-744

[3] VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration [J].

Hirabayashi, M ;

Inoue, K ;

Tanaka, K ;

Nakadate, K ;

Ohsawa, Y ;

Kamei, Y ;

Popiel, AH ;

Sinohara, A ;

Iwamatsu, A ;

Kimura, Y ;

Uchiyama, Y ;

Hori, S ;

Kakizuka, A .

CELL DEATH AND DIFFERENTIATION, 2001, 8 (10) :977-984

[4] Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone [J].

Kimonis, VE ;

Kovach, MJ ;

Waggoner, B ;

Leal, S ;

Salam, A ;

Rimer, L ;

Davis, K ;

Khardori, R ;

Gelber, D .

GENETICS IN MEDICINE, 2000, 2 (04) :232-241

[5] Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia [J].

Kovach, MJ ;

Waggoner, B ;

Leal, SM ;

Gelber, D ;

Khardori, R ;

Levenstien, MA ;

Shanks, CA ;

Gregg, G ;

Al-Lozi, MT ;

Miller, T ;

Rakowicz, W ;

Lopate, G ;

Florence, J ;

Glosser, G ;

Simmons, Z ;

Morris, JC ;

Whyte, MP ;

Pestronk, A ;

Kimonis, VE .

MOLECULAR GENETICS AND METABOLISM, 2001, 74 (04) :458-475

[6] Mutant valosin-containing protein causes a novel type of frontotemporal dementia [J].

Schröder, R ;

Watts, GDJ ;

Mehta, SG ;

Evert, BO ;

Broich, P ;

Fliessbach, K ;

Pauls, K ;

Hans, VH ;

Kimonis, V ;

Thal, DR .

ANNALS OF NEUROLOGY, 2005, 57 (03) :457-461

[7] Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy [J].

Waggoner, B ;

Kovach, MJ ;

Winkelman, M ;

Cai, D ;

Khardori, R ;

Gelber, D ;

Kimonis, VE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (03) :187-191

[8] Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions [J].

Wang, Q ;

Song, CC ;

Li, CCH .

JOURNAL OF STRUCTURAL BIOLOGY, 2004, 146 (1-2) :44-57

[9]

WATTS GD, 2004, NAT GENET APR, P377

[10] Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes [J].

Watts, GDJ ;

Thorne, M ;

Kovach, MJ ;

Pestronk, A ;

Kimonis, VE .

NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) :559-567