Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.
Mutations in the valosin-containing-protein (VCP) gene are associated with the multidisorder disease, inclusion body myopathy with Pagets and associated frontotemporal dementia. This disease is characterized pathologically by large ubiquitinated, TAR DNA Binding Protein 43 (TDP-43) positive inclusions. These inclusions are also a common feature in neurological diseases including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTLD). Mutations in the VCP gene have been identified in ALS patients, therefore we aimed to characterize VCP variations in our own cohort of familial and sporadic ALS patients by sequencing all 17 coding exons of VCP. This study failed to detect any exonic variations in a subset of British familial and sporadic ALS patients.
Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.
Jack W
JW
Miller
Bradley N
BN
Smith
Simon D
SD
Topp
Ammar
A
Al-Chalabi
Christopher E
CE
Shaw
Caroline
C
Vance
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics; D003704:Dementia / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D000074405:Valosin Containing Protein
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein