Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
Journal of Neurology, Neurosurgery & Psychiatry
Fecha de publicación: 30 September 2018
DOI: http://dx.doi.org/10.1136/jnnp-2018-319089
Autores: Puja R Mehta, Ashley R Jones, Sarah Opie-Martin, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Bradley N Smith, Simon Topp, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Sarah Morgan, Alan Pittman, Ammar Al-Chalabi.
Background: Amyotrophic 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 sporadic ALS. We sought to determine whether this younger age of onset is a result of ascertainment bias or has a genetic basis
