For a better understanding of the disease a thorough phenotype genotype analysis is needed. This working group will harmonize SOP’s.
Ammar Al-Chalabi, Ahmad Al Keilfat, A. Nazli Basak, Ross Byrne, Yolanda Campos, Adriano Chio, Johnathan Cooper-Knock, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Orla Hardiman, Victoria López, Russell L. McLaughlin, Aleksey Shatunov, Vincenzo Silani, Philip Van Damme, Michael A. van Es, Patrick Vourc’h, Atay Vural, Markus Weber
ALS has a remarkable phenotypic variability, with great heterogeneity in disease parameters such as age at onset, site of onset, disease progression/survival, frontotemporal impairment. Several genes have been identified to modify the disease course, like the C9orf72 repeat expansion, UNC13A4, C9orf725, SARM1 and CAMTA1 and probably many more still to be uncovered. For a better understanding of the disease a thorough phenotype genotype analysis is needed.