Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study

The Lancet Neurology

Fecha de publicación: Mayo de 2021

Autores: Henk-Jan Westeneng, MD, Kevin van Veenhuijzen, MD, Rick A van der Spek, MD, Susan Peters, PhD, Anne E Visser, MD, Wouter van Rheenen, MD, Jan H Veldink, MD, Leonard H van den Berg, MD 

DOI: https://doi.org/10.1016/S1474-4422(21)00042-9

Background: Amyotrophic lateral sclerosis (ALS) is considered to be caused by both genetic and environmental factors. The causal cascade is, however, not known. We aimed to assess lifestyle during the presymptomatic phase of ALS, stratified by C9orf72 mutation, and examine evidence supporting causality of lifestyle factors. Methods: This study was a longitudinal, population-based, case-control study that used data from the Prospective ALS study the Netherlands. We included patients with a C9orf72 mutation (C9+ group), patients without a C9orf72 mutation (C9– group), and controls. Patients fulfilled the revised El Escorial criteria and were recruited through neurologists and rehabilitation physicians in the Netherlands as well as the Dutch Neuromuscular Patient Association and ALS Centrum website. 1322 population-based controls, matched for age and sex, were enrolled via the patients’ general practitioners.