Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

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

*Corresponding author for this work

Research output: Contribution to journalArticle

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1488.e15-1488.e16
Number of pages2
JournalNeurobiology of Aging
Volume33
Issue number7
DOIs
Publication statusPublished - Jul 2012
Externally publishedYes

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