A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Neuromuscular Disorders

Volumn 25, Issue 2, 2015, Pages 177-183

  Surampalli, Abhilasha ^a   Gold, Brian T ^b   Smith, Charles ^b   Castellani, Rudy J ^c   Khare, Manaswitha ^a   Yu, Hon ^d   Nguyen, Celeste ^e   Lan, Mary ^a   Wencel, Marie ^a   Wigal, Sharon ^e   Caiozzo, Vince ^a   Kimonis, Virginia ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Frontotemporal dementia screening; Inclusion body myopathy; Multisystem proteinopathy; Neuropsychological assessment; VCP

Indexed keywords

ALKALINE PHOSPHATASE; CREATINE KINASE; GENOMIC DNA; TAR DNA BINDING PROTEIN; VALOSIN CONTAINING PROTEIN; ADENOSINE TRIPHOSPHATASE; CDC48 PROTEIN; CELL CYCLE PROTEIN;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ATTENTION DISTURBANCE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BEHAVIOR CHANGE; BRAIN SIZE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE STUDY; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE DURATION; DNA SEQUENCE; DUAL ENERGY X RAY ABSORPTIOMETRY; DYSPHAGIA; FAMILY HISTORY; FECES INCONTINENCE; FRONTOTEMPORAL DEMENTIA; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INCLUSION BODY MYOPATHY PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA; LUNG FUNCTION TEST; MALE; MEDICAL HISTORY; MEMORY DISORDER; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MUSCLE WEAKNESS; MYOPATHY; NEUROIMAGING; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PAGET BONE DISEASE; PERIPHERAL NEUROPATHY; PSYCHOMETRY; TWIN DISCORDANCE; VCP GENE; WORKING MEMORY; BLOOD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; INCLUSION BODY MYOSITIS; MUTATION; PATHOLOGY; PHOTON ABSORPTIOMETRY; TWINS;

ABSORPTIOMETRY, PHOTON; ADENOSINE TRIPHOSPHATASES; ALKALINE PHOSPHATASE; CELL CYCLE PROTEINS; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; MYOSITIS, INCLUSION BODY; TWINS;

EID: 84921047547     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.10.003     Document Type: Article

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