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

Neurology

Volumn 65, Issue 8, 2005, Pages 1304-1305

  Haubenberger, D ^a   Bittner, R E ^a   Rauch Shorny, S ^c   Zimprich, F ^a   Mannhalter, C ^b   Wagner, L ^b   Mineva, I ^b   Vass, K ^a   Auff, E ^a   Zimprich, Alexander ^a,d  

^a Medical University of Vienna   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 9P; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; INCLUSION BODY MYOPATHY; INCLUSION BODY MYOSITIS; MALE; MISSENSE MUTATION; MYOPATHY; PAGET BONE DISEASE; PRIORITY JOURNAL; VCP GENE;

EID: 27144483812     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000180407.15369.92     Document Type: Article

References (10)

1. Kovach MJ, Waggoner B, Leal SM, et al. 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. Mol Genet Metab 2001;74:458-475.
2. Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004;Apr:377-381.
3. Schroder R, Watts GD, Mehta SG, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 2005;57:457-461.
4. Dai RM, Li CC. Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. Nat Cell Biol 2001;3:740-744.
5. Hirabayashi M, Inoue K, Tanaka K, et al. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ 2001;8:977-984.
6. Wang Q, Song C, Li CC. Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions. J Struct Biol 2004;146:44-57.
7. Askanas V, Engel WK. Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 2002;15:525-531.
8. Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2000;2:232-241.
9. Waggoner B, Kovach MJ, Winkelman M, et al. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet 2002;108:187-191.
10. Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul Disord 2003;13:559-567.