2 documents found, page 1 of 1
July 2017 ENCALS statement on edaravone
Al-Chalabi, Ammar; Andersen, Peter M.; Chandran, Siddharthan; Chio, Adriano; Corcia, Philippe; Couratier, Philippe; Danielsson, Olof; Carvalho, MamedeNeurologists of the ENCALS centers throughout Europe have discussed the potential of edaravone as a new therapy for amyotrophic lateral sclerosis (ALS, Motor Neuron Disease, MND) at the ENCALS meeting, 18–20 May 2017, in Ljubljana, Slovenia. In May 2017, the US Food and Drug Administration (FDA) granted a license for the drug known as edaravone (licensed in Japan in 2015 as Radicut) for the treatment of ALS in ...
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt, Axel; Wieland, Thomas; Richter, Benjamin; Ruf, Wolfgang; Schaeffer, Veronique; Müller, Kathrin; Marroquin, Nicolai; Nordin, FridaAmyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees....