Is all ALS genetic?

In this issue of Neurology®, Gibson et al.1 address an important issue in amyotrophic lateral sclerosis (ALS) genetics; namely, what percentage of isolated or sporadic forms of ALS that have an identifiable genetic factor are likely responsible for disease pathogenesis. To address this, the authors used a 3-step approach: first, they selected 87 patients they diagnosed with sporadic ALS (SALS) and who were of European ancestry (to get as a homogenous a study cohort as possible). They then screened the exons of all 23,000 genes, focusing on variants in the 31 genes earlier linked to ALS, as well as 2 repeat intron sequences in the C9orf72 and ATXN2 genes also known to cause ALS. As with the general population, the patients harbored several genetic variants. The critical question is as follows: which of them are pathogenic?

Source: Neurology - July 17, 2017 Category: Neurology Authors: Andersen, P. M. Tags: All Neuromuscular Disease, Amyotrophic lateral sclerosis, All Genetics, Association studies in genetics EDITORIALS Source Type: research