Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

作者：Williams Kelly L; Solski Jennifer A; Nicholson Garth A; Blair Ian P^*

来源：Neurobiology of Aging, 2012, 33(7): 1488.e15.

DOI：10.1016/j.neurobiolaging.2011.11.022

• Amyotrophic lateral sclerosis
• Valosin-containing protein
• Gene
• Mutation

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons in the motor cortex, brain stem and spinal cord. Mutations in the valosin-containing protein gene (VCP) were recently described in ALS families. Some of these families included diagnoses of other clinical features including frontotemporal dementia, Paget's disease, inclusion body myopathy, Parkinsonism and limb weakness. We sought to determine the prevalence of VCP mutations in Australian familial (n = 131) and sporadic (n = 48) ALS cohorts diagnosed with classic ALS. No mutations were identified indicating that VCP mutations are not a common cause of classic ALS among Australian cases with predominantly European ancestry.

• 出版日期2012-7