Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Neurobiology of Aging

Volumn 30, Issue 5, 2009, Pages 752-758

  Bersano, Anna ^a   Del Bo, Roberto ^a   Lamperti, Costanza ^a   Ghezzi, Serena ^a   Fagiolari, Gigliola ^a   Fortunato, Francesco ^a   Ballabio, Elena ^a   Moggio, Maurizio ^a   Candelise, Livia ^a   Galimberti, Daniela ^a   Virgilio, Roberta ^a   Lanfranconi, Silvia ^a   Torrente, Yvan ^a   Carpo, Marinella ^a   Bresolin, Nereo ^a,b   Comi, Giacomo P ^a   Corti, Stefania ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Frontotemporal dementia; Inclusion body myopathy; Valosin containing protein

Indexed keywords

IMMUNOGLOBULIN; PREDNISONE;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; INCLUSION BODY MYOPATHY; MALE; MUSCLE BIOPSY; MYOPATHY; NEUROLOGIC EXAMINATION; PAGET BONE DISEASE; PRIORITY JOURNAL; VASOLIN CONTAINING PROTEIN GENE;

ADENOSINE TRIPHOSPHATASES; AGE OF ONSET; AGED; BRAIN; CELL CYCLE PROTEINS; DEMENTIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCLUSION BODIES; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; MYOSITIS, INCLUSION BODY; UBIQUITIN;

EID: 62349132008     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2007.08.009     Document Type: Article

References (19)

1. Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., Snowden J., Adamson J., Sadovnick A.D., Rollinson S., Cannon A., Dwosh E., Neary D., Melquist S., Richardson A., Dickson D., Berger Z., Eriksen J., Robinson T., Zehr C., Dickey C.A., Crook R., McGowan E., Mann D., Boeve B., Feldman H., and Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442 (2006) 916-919
2. Bazzi P., Moggio M., Prelle A., Sciacco M., Messina S., Barbieri S., Tonin P., Tomelleri G., Battistel A., Adobbati L., Checcarelli N., Veschi G., and Scarlato G. Critically ill patients: immunological evidence of inflammation in muscle biopsy. Clin. Neuropathol. 18 (1999) 23-30
3. Del Bo R., Comi G.P., Bresolin N., Castelli E., Conti E., Degiuli A., Ausenda C.D., and Scarlato G. The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects. J. Neurol. Sci. 145 (1997) 87-91
4. Del Bo R., Baron P., Pelle A., Serafini M., Moggio M., Fonzo A.D., Castagni M., Bresolin N., and Comi G.P. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion body myopathy. Muscle Nerve 28 (2003) 113-117
5. DeLaBarre B., and Brunger A.T. Complete structure of p97/valosin-containing protein reveals communication between nucleotide domains. Nat. Struct. Biol. 10 (2003) 856-863
6. Dubowitz V. Muscle Biopsy, A Practical Approach. second ed. (1985), Bailliere Tindal, London
7. Guyant-Marechal L., Laquerriere A., Duyckaerts C., Dumanchin C., Bou J., Dugny F., Le Ber I., Frebourg T., Hannequin D., and Campion D. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology 67 (2006) 644-651
8. Haubenberger D., Bittner R.E., Rauch-Shorny S., Zimprich F., Mannhalter C., Wagner L., Mineva I., Vass K., Auff E., and Zimprich A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 65 (2005) 1304-1305
9. Hirabayashi M., Inoue K., Tanaka K., Nakadate K., Ohsawa Y., Kamei Y., Popiel A.H., Sinohara A., Iwamatsu A., Kimura Y., Uchiyama Y., Hori S., and Kakizuka A. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ. 8 (2001) 977-984
10. Hubbers C.U., Clemen C.S., Kesper K., Boddrich A., Hofmann A., Kamarainen O., Tolksdorf K., Stumpf M., Reichelt J., Roth U., Krause S., Watts G., Kimonis V., Wattjes M.P., Reimann J., Thal D.R., Biermann K., Evert B.O., Lochmuller H., Wanker E.E., Schoser B.G., Noegel A.A., and Schroder R. Pathological consequences of VCP mutations on human striated muscle. Brain 130 (2007) 381-393
11. Kovach M.J., Waggoner B., Leal S.M., Gelber D., Khardori R., Levenstien M.A., Shanks C.A., Gregg G., Al-Lozi M.T., Miller T., Rakowicz W., Lopate G., Florence J., Glosser G., Simmons Z., Morris J.C., Whyte M.P., Pestronk A., and Kimonis V.E. 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. 74 (2001) 458-475
12. Mizuno Y., Hori S., Kakizuka A., and Okamoto K. Vacuole-creating protein in neurodegenerative diseases in humans. Neurosci. Lett. 343 (2003) 77-80
13. Neary D., Snowden J.S., Gustafson L., Passant U., Stuss D., Black S., Freedman M., Kertesz A., Robert P.H., Albert M., Boone K., Miller B.L., Cummings J., and Benson D.F. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51 (1998) 1546-1554
14. Prelle A., Rigoletto C., Moggio M., Sciacco M., Comi G.P., Ciscato P., Fagiolari G., Rapuzzi S., Bigotti V., and Scarlato G. Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. J. Neurol. Sci. 140 (1996) 132-136
15. Schroder R., Watts G.D., Mehta S.G., Evert B.O., Broich P., Fliessbach K., Pauls K., Hans V.H., Kimonis V., and Thal D.R. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann. Neurol. 57 (2005) 457-461
16. Spillantini M.G., Murrell J.R., Goedert M., Farlow M.R., Klug A., and Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U.S.A. 95 (1998) 7737-7741
17. Watts G.D., Thorne M., Kovach M.J., Pestronk A., and Kimonis V.E. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul. Disord. 13 (2003) 559-567
18. Watts G.D., Wymer J., Kovach M.J., Mehta S.G., Mumm S., Darvish D., Pestronk A., Whyte M.P., and Kimonis V.E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 36 (2004) 377-381
19. Weihl C.C., Dalal S., Pestronk A., and Hanson P.I. Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. Hum. Mol. Genet. 15 (2006) 189-199