Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

Puja R Mehta,Ashley R Jones,Pamela J Shaw,Alan Pittman,Aleksey Shatunov,Karen E Morrison,Sarah Morgan,Ahmad Al Khleifat,Bradley N Smith,Ammar Al-Chalabi,Sarah Opie-Martin,Simon Topp,Christopher E Shaw,Alfredo Iacoangeli

doi:10.1136/jnnp-2018-319089

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

Puja R Mehta, Ashley R Jones + Show 12 more

Open Access

https://doi.org/10.1136/jnnp-2018-319089

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Journal: Journal of Neurology, Neurosurgery & Psychiatry	Publication Date: Sep 30, 2018
Citations: 43	License type: open-access

Affiliation: King's College London, University of Sheffield, National Hospital for Neurology and Neurosurgery, University College London, University Hospital Southampton NHS Foundation Trust, University of Southampton, King's College Hospital, UK Dementia Research Institute

#Younger Age Of Onset #Familial ALS + Show 8 more

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Abstract

ObjectiveAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease of motor neurons with a median survival of 2 years. Familial ALS has a younger age of onset than apparently...

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