Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

Neurology

Volumn 79, Issue 22, 2012, Pages 2201-2208

  González Pérez, Paloma ^a   Cirulli, Elizabeth T ^b   Drory, Vivian E ^c,d   Dabby, Ron ^d,e   Nisipeanu, Puiu ^f,g   Carasso, Ralph L ^f,g   Sadeh, Menachem ^d,e   Fox, Andrew ^a   Festoff, Barry W ^h,i   Sapp, Peter C ^a,j   McKenna Yasek, Diane ^a   Goldstein, David B ^b   Brown, Robert H ^a   Blumen, Sergiu C ^f,g  

^a UNIVERSITY OF MASSACHUSETTS   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e WOLFSON MEDICAL CENTER   (Israel)

^f HILLEL YAFFE MEDICAL CENTER   (Israel)

^g TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^h VETERANS AFFAIRS MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^j MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

VALOSIN CONTAINING PROTEIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARAB; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL INCLUSION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXOME; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; ISRAEL; LIMIT OF DETECTION; MOTOR NEURON DISEASE; PAGET BONE DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84871331678     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318275963b     Document Type: Article

References (35)

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 the 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;36:377-381.
3. Haubenberger D, Bittner RE, Rauch-Schorny S, et al. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 2005;65:1304-1305.
4. Guyant-Marèchal L, Laquerrière A, Duyckaerts C, et al. Valosin-containing protein gene mutations: clinical and neuropathological features. Neurology 2006;67:644-651.
5. Watts GD, Thomasova D, Ramdean SK, et al. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet 2007;72:420-426.
6. Viassolo V, Previtali SC, Schiatti E, et al. Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. Clin Genet 2008;74:54-60.
7. Gidaro T, Modoni A, Sabatelli M, Tasca G, Broccolini A, MirabellaM. An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in VCP gene. Muscle Nerve 2008;37:111-114.
8. Djamshidian A, Schaefer J, Haubenberger D, et al. 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 Nerve 2009;39:389-391.
9. Bersano A, Del Bo R, Lamperti C, et al. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging 2009;30:752-758.
10. Stojkovic T, Hammouda el H, Richard P, et al. Clinical outcome in 19 French and Spanish patients with valosincontaining protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord 2009;19:316-323.
11. Kumar KR, Needham M, Mina K, et al. Two Australian families with inclusion body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. Neuromuscul Disord 2010;20:330-334.
12. Kim EJ, Park YE, Kim DS, et al. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. Arch Neurol 2011;68:787-796.
13. Palmio J, Sandell S, Snominen T, et al. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord 2011;21:551-555.
14. Fanganiello RD, Kimonis VE, Corte CC, Nitrini R, Passos-Bueno MR. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Braz J Med Biol Res 2011;44:374-380.
15. Rohrer JD,Warren JD, Reiman D, et al. A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes. J Neurol 2011;258:1494-1496.
16. Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010;68:857-864.
17. Erratum in: Neuron 2011;69:397.
18. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-299.
19. Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 2005;21:2123-2125.
20. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-1760.
21. Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009;25: 2078-2079.
22. Ge D, Ruzzo EK, Shianna KV, et al. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics 2011;27:1998-2000.
23. Koppers M, van Blitterwijk MM, Vlam L, et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:837.e7-837. e13.
24. Hübbers C, Clemen C, Kesper K, et al. Pathological consequences of VCP mutations on human striated muscle. Brain 2007;130:381-393.
25. Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul Disord 2009;19:308-315.
26. Vij N. AAA ATPase p97/VCP: cellular functions, disease and therapeutic potential. J Cell Mol Med 2008;12:2511-2518.
27. Wolf DH, Stolz A. The Cdc 48 machine in endoplasmic reticulum associated protein degradation. Biochim Biophys Acta 2012;1823:117-124.
28. Ju JS, Fuentealba RA, Miller SE, et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 2009;187:875-888.
29. Song C, Wang Q, Li CC. Characterization of the aggregation-prevention activity of p97/valosin-containing protein. Biochemistry 2007;46:14889-14898.
30. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar dementia and amyotrophic lateral sclerosis. Science 2006;314: 130-133.
31. Nalbandian A, Donkervoort S, Dec E, et al. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci 2011;45:522-531.
32. Abramzon Y, Johnson JO, Scholz SW, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012;33:2231.e1-2231.e6.
33. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-1672.
34. DeJesus-Hernández M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of c9orf72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
35. Renton AE, Maujonie E, Waite A, et al. A hexanucleotide repeat expansion in c9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.