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BMJ Publishing Group, Journal of Neurology, Neurosurgery and Psychiatry, 5(85), p. 506-508

DOI: 10.1136/jnnp-2013-306761

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Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.

Journal article published in 2013 by Pietro Fratta ORCID, James Charnock, Toby Collins, Anny Devoy, Robin Howard, Andrea Malaspina, Richard Orrell, Katie Sidle, Jan Clarke, Maryam Shoai, Ch-H. Lu, John Hardy, Vincent Plagnol ORCID, Em M. C. Fisher
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Abstract

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 and sporadic cases, and also found in controls, casting doubt on its pathogenicity. Interpretation of such variants represents a significant clinical-genetics challenge.