A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

Muscle and Nerve

Volumn 39, Issue 3, 2009, Pages 389-391

  Djamshidian, Atbin ^a   Schaefer, Jochen ^b   Haubenberger, Dietrich ^a   Stogmann, Elisabeth ^a   Zimprich, Friedrich ^a   Auff, Eduard ^a   Zimprich, Alexander ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

G157R; Hearing loss; IBMPFD; Mutation; VCP

Indexed keywords

VALOSIN CONTAINING PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; DISEASE SEVERITY; FAMILY STUDY; FEMALE; FRONTOTEMPORAL DEMENTIA; GERMANY; HEARING IMPAIRMENT; HUMAN; INCLUSION BODY MYOSITIS; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; PAGET BONE DISEASE; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; ADULT; ARGININE; CELL CYCLE PROTEINS; DEMENTIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERMANY; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS;

EID: 62849091775     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21225     Document Type: Article

References (14)

1. 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.
2. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB. A frontal assessment battery at bedside. Neurology 2000;55:1621-1626.
3. Gidaro T, Modoni A, Sabatelli M, Tasca G, Broccolini A, Mirabella M. An Italian family with inclusion body myopathy and frontotemporal dementia due to a mutation in the VCP gene. Muscle Nerve 2008;37:111-114.
4. Guyant-Maréchal L, Laquerriére A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frebourg T, Hannequin D, Campion D. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology 2006;67:644-651.
5. Haubenberger D, Bittner RE, Rauch-Shorny S, Zimprich F, Mannhalter C, Wagner L, Mineva I, Vass K, Auff E, Zimprich A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 2005;65:1304-1305.
6. 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. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ 2001;8:977-984.
7. Hübbers C, Clemen C, Kesper K, Böddrich A, Hofmann A, Kämäräínen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoger BG, Noegel AA, Schröder R. Pathological consequences of VCP mutations on human striated muscle. Brain 2007;130:381-393.
8. Kalbe E, Kessler J, Calabrese P, Smith R, Passmore AP, Brand M, Bullock R. DemTect: a new, sensitive cognitive screening test to support the diagnosis of mild cognitive impairment and early dementia. Int J Geriatr Psychiatry 2004;19:136-143.
9. Kimonis V, Watts GD. Inclusion body myopathy with Paget disease of the bone and/or frontotemporal dementia. Gene Rev 2007;XX:1-18. (http:\\www. geneclinics.org)
10. Krause S, Göhringer T, Walter MC, Schoser BG, Reilich P, Linn J, Pöpperl GE,. Frölich L, Hentschel F, Lochmüller H, Danek A. Brain imaging and neuropsychology in late onset dementia due to a novel mutation (R93C) of the valosin-containing protein. Clin Neuropathol 2007;26:232-240.
11. Murdin L, Yeoh LH. Hearing loss treated with pamidronate. J R Soc Med 2005;98:272-274.
12. 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.
13. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004;36(4):377-381.
14. Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet 2007:72:420-426.