Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

Williams, Kelly L.; Solski, Jennifer A.; Nicholson, Garth A.; Blair, Ian P.

doi:10.1016/j.neurobiolaging.2011.11.022

« Previous Next »Neurobiology of Aging
Volume 33, Issue 7 , Pages 1488.e15-1488.e16, July 2012

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

Kelly L. Williams
- Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia
- Sydney Medical School, University of Sydney, New South Wales, 2006, Australia
Jennifer A. Solski
- Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia
Garth A. Nicholson
- Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia
- Sydney Medical School, University of Sydney, New South Wales, 2006, Australia
- Molecular Medicine Laboratory, Concord Hospital, New South Wales, 2139, Australia
Ian P. Blair
- Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia
- Sydney Medical School, University of Sydney, New South Wales, 2006, Australia
- Corresponding author. Tel: +61 2 9767 9118; fax: +61 2 9767 9101

Received 11 October 2011; received in revised form 20 November 2011; accepted 20 November 2011. published online 26 December 2011.

Abstract

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.

Keywords: Amyotrophic lateral sclerosis , Valosin-containing protein , Gene , Mutation