French National Protocol for genetic of amyotrophic lateral sclerosis

Rev Neurol (Paris). 2023 Sep 19:S0035-3787(23)01019-6. doi: 10.1016/j.neurol.2023.05.005. Online ahead of print.ABSTRACTRelationships between genes and amyotrophic lateral sclerosis (ALS) have been widely accepted since the first studies highlighting pathogenic mutations in the SOD1 gene 30years ago. Over the last three decades, scientific literature has clearly highlighted the central role played by genetic factors in the disease, in both clinics and pathophysiology, as well as in therapeutics. This implies that health professionals who care for patients with ALS are increasingly faced with patients and relatives eager to have answers to questions related to the role of genetic factors in the occurrence of the disease and the risk for their relatives to develop ALS. In order to address these public health issues, the French ALS network FILSLAN proposed to the Haute Autorité de santé (HAS) the drafting of a French National Protocol (PNDS) on ALS genetics. This PNDS was developed according to the "method for developing a national diagnosis and care protocol for rare diseases" published by the HAS in 2012 (methodological guide for PNDS available on the HAS website: http://www.has-sante.fr/). This document aims to provide the most recent data on the role of genes in ALS and to detail the implications for diagnosis and care.PMID:37735015 | DOI:10.1016/j.neurol.2023.05.005

Source: Revue Neurologique - September 21, 2023 Category: Neurology Authors: P Corcia P Vourc'h E Bernard J Cassereau P Codron M-C Fleury N Guy K Mouzat P-F Pradat M-H Soriani P Couratier Source Type: research