Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis

Fused - in - sarcoma ( FUS ) mutation is associated with a familial amyotrophic lateral sclerosis (fALS) characterized by early onset and rapid progression. Here, the authors describe a rare case of possible somatic mosaicism of a novel FUS variant for a fALS family with intrafamilial clinical variablity.