Article
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Journal of neurology, neurosurgery, and psychiatry - 1 May 2014
Fratta Pietro, Charnock James, Collins Toby, Devoy Anny, Howard Robin, Malaspina Andrea, Orrell Richard, Sidle Katie, Clarke Jan, Shoai Maryam, Lu Ching-Hua, Hardy John, Plagnol Vincent, Fisher Elizabeth M C
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurodegenerative disorders that share significant clinical, pathological and genetic overlap and are considered to represent different ends of a common disease spectrum. Mutations in Profilin1 have recently been described as a rare cause of familial ALS. The PFN1 E117G missense variant has been described in familial...
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