Asymptomatic members with SOD1 mutation in a large kindred with familial amyotrophic lateral sclerosis have abnormal water diffusion characterisitcs

Abstract

DTI was carried out in FALS/SALS patients and familial members with SOD1 mutation (AFALS) who may be in a pre-symptomatic phase of ALS. The changes in FA and TT were investigated in CBT/CST and in whole brain. In FALS/SALS, diffusion pattern changes were found in cerebral peduncle, internal capsule, sub-cortical white matter, cerebellum and frontal lobe while in AFALS, abnormal pattern could also be detected in the cerebral peduncle, cerebellum and frontal lobe but with a smaller extent. Our study indicates that DTI can show early diffusion changes in members with SOD1 mutation in FALS prior to symptom-onset.