Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

作者：Miller Jack W; Smith Bradley N; Topp Simon D; Al Chalabi Ammar; Shaw Christopher E; Vance Caroline^*

来源：Neurobiology of Aging, 2012, 33(11): 2721.e1.

DOI：10.1016/j.neurobiolaging.2012.06.003

• Amyotrophic lateral sclerosis
• Motor neuron disease
• Familial ALS
• VCP gene
• Mutation

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.

• 出版日期2012-11