Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): Clinical features including sphincter disturbance in a large pedigree

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 5, 2009, Pages 583-584

  Miller, T D ^a   Jackson, A P ^b   Barresi, R ^c   Smart, C M ^a   Eugenicos, M ^b   Summers, D ^a   Clegg, S ^b   Straub, V ^c   Stone, J ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PEPTIDE; VALOSIN;

ADULT; DEMENTIA; FEMALE; GENETICS; HUMAN; INCLUSION BODY MYOSITIS; LETTER; MALE; MIDDLE AGED; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; PATHOLOGY; PEDIGREE; URGE INCONTINENCE;

ADULT; DEMENTIA; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS; PEDIGREE; PEPTIDES; URINARY INCONTINENCE, URGE; YOUNG ADULT;

EID: 65449131271     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.148676     Document Type: Note

References (5)

1. Watts GDJ, 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;36:377-81. (Pubitemid 38437260)
2. 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;74:458-75. (Pubitemid 34084655)
3. Hubbers CU, Clemen CS, Kesper K, et al. Pathological consequences of VCP mutations on human striated muscle. Brain 2006;130:381-93.
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5. 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;26:232-40. (Pubitemid 47403418)