A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease

Clinical Neurology

Volumn 53, Issue 6, 2013, Pages 458-464

  Igari, Ryousuke ^a   Wada, Manabu ^a   Sato, Hiroyasu ^a   Hayashi, Yukiko K ^b   Nishino, Ichizo ^b   Kato, Takeo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Frontotemporal dementia; Inclusion body myopathy; Motor neuron disease; Paget's disease of bone; Valosin containing protein (VCP) gene

Indexed keywords

VALOSIN CONTAINING PROTEIN;

ADULT; ARTICLE; BONE SCINTISCANNING; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYPERREFLEXIA; INCLUSION BODY MYOPATHY; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PAGET BONE DISEASE;

FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS;

EID: 84879587472     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: 10.5692/clinicalneurol.53.458     Document Type: Article

References (27)

1. Kimonis VE, Fulchiero E, Vesa J, et al. VCP disease associated with myopathy, Paget disease of bone and frontotempral dementia: review of a unique disorder. Biochim Biophys Acta 2008;1782:744-748.
2. Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: inclusion body myopathy with Paget's disese of the bone and fronto-temporal dementia. Neuromuscul Disord 2009;19:308-315.
3. 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. (Pubitemid 38437260)
4. 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.
5. Yamanaka K, Sasagawa Y, Ogura T. Recent advances in p97/VCP/Cdc48 cellular functions. Biochim Biophys Acta 2012;1823:130-137.
6. Wang Q, Song C, Li CCH. Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions. J Struct Biol 2004;146:44-57. (Pubitemid 38369017)
7. Guyant-Maréchal L, Laquerrière A, Duyckaerts C, et al. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology 2006;67:644-651. (Pubitemid 44273612)
8. Shi Z, Hayashi Y, Mitsuhashi S, et al. Characterization of the Asian myopathy patients with VCP mutations. Eur J Neurol 2012;19:501-509.
9. Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010;68:857-864.
10. Schröder R, Watts GD, Mehta SG, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 2005;57:457-461. (Pubitemid 40343972)
11. Neumann M, Mackenzie IR, Cairns NJ, et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 2007;66:152-157. (Pubitemid 46208736)
12. van der Zee J, Pirici D, Van Langenhove T, et al. Clinical heterogeniety in 3 unrelated families linked to VCP p.Arg159His. Neurology 2009;73:626-632.
13. Stojkovic T, Hammouda el H, Richard P, et al. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord 2009;19:316-323.
14. Haubenberger D, Bittner RE, Rauch-Shorny S, et al. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 2005;65:1304-1305. (Pubitemid 41508231)
15. Hübbers CU, Clemen CS, Kesper K, et al. Pathological consequences of VCP mutations on human striated muscle. Brain 2007;130:381-393. (Pubitemid 46181092)
16. Krause S, Göhringer T, Walter MC, et al. Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. Clin Neuropathol 2007;26:232-240. (Pubitemid 47403418)
17. Watts GD, Thomasova D, Ramdeen 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. (Pubitemid 47570695)
18. Gidaro T, Modoni A, Sabatelli M, et al. An Itahan family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene. Muscle Nerve 2008;37:111-114.
19. Spina S, van Laar AD, Murrell JR, et al. Frontotemporal dementia associated with a valosin-containing protein mutation: report of three families. FASEB J 2008;22:58.4 (Abstract).
20. Vesa J, Su H, Watts GD, et al. Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord 2009;19:766-772.
21. 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.
22. 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.
23. 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.
24. 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.
25. Palmio J, Sandell S, Suominen T, et al. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord 2011;21:551-555.
26. 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.
27. Kimonis VE, Mehta SG, Fulchieroet EC, et al. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet 2008;146:745-757. (Pubitemid 351354150)