Valosin-containing protein mutation and Parkinson's disease

Parkinsonism and Related Disorders

Volumn 18, Issue 1, 2012, Pages 107-109

  Chan, Nora ^a   Le, Cindy ^b   Shieh, Perry ^c   Mozaffar, Tahseen ^d   Khare, Manaswitha ^a   Bronstein, Jeff ^b   Kimonis, Virginia ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPRAZOLAM; AMANTADINE; CARBIDOPA PLUS ENTACAPONE PLUS LEVODOPA; CARBIDOPA PLUS LEVODOPA; DOPAMINE RECEPTOR STIMULATING AGENT; QUETIAPINE; ROPINIROLE; VALOSIN CONTAINING PROTEIN;

ADD ON THERAPY; ADULT; ANAMNESIS; ANXIETY; CASE REPORT; CELL INCLUSION; CLINICAL FEATURE; DISEASE ASSOCIATION; DYSARTHRIA; DYSKINESIA; EVENING DOSAGE; FATIGUE; HUMAN; IMPULSE CONTROL DISORDER; LETTER; MALE; MARKER GENE; MEMORY DISORDER; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE RIGIDITY; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; PARASOMNIA; PARKINSON DISEASE; PATHOLOGICAL GAMBLING; PRIORITY JOURNAL; SCORING SYSTEM; SLEEP DISORDER; SPEECH DISORDER; TREMOR; ULTRASTRUCTURE; UNIFIED PARKINSON DISEASE RATING SCALE; VASTUS LATERALIS MUSCLE; VCP GENE;

ADENOSINE TRIPHOSPHATASES; AGED; AGED, 80 AND OVER; CELL CYCLE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEDIGREE;

EID: 84655167574     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.07.006     Document Type: Letter

References (5)

1. Kimonis V.E., Kovach M.J., Waggoner B., Leal S., Salam A., Rimer L., et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2000, 2:232-241.
2. Watts G.D.J., Wymer J., Kovach M.J., Mehta S.G., Mumm S., Darvish D., et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004, 6:377-381.
3. Neumann M., Mackenzie I.R., Cairns N.J., Boyer P.J., Markesbery W.R., Smith C.D., et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 2007, 66:152-157.
4. Bersano A., Del Bo R., Lamperti C., Ghezzi S., Fagiolari G., Fortunato F., et al. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging 2009 May, 30(5):752-758.
5. Spina S., Van Laar A., Murrell J., de Courten-Myers G., Hamilton R.L., Farlow M.R., et al. Frontotemporal dementia associated with a valosin-containing protein mutation: report of three families. FASEB J 2008, 22:58.4.