TY  - JOUR
T1  - DIfferential involvement of optineurin in amyotrophic lateral sclerosis with or without sod1 mutations
AU  - Deng H, Bigio EH, Zhai H, et al
Y1  - 2011/08/01
N1  - 10.1001/archneurol.2011.178
JO  - Archives of Neurology
SP  - 1057
EP  - 1061
VL  - 68
IS  - 8
N2  - Background 
                  Mutations in optineurin have recently been linked to amyotrophic lateral sclerosis (ALS).Objective 
                  To determine whether optineurin-positive skeinlike inclusions are a common pathologic feature in ALS, including SOD1 -linked ALS.Design 
                  Clinical case series.Setting 
                  Academic referral center.Subjects 
                  We analyzed spinal cord sections from 46 clinically and pathologically diagnosed ALS cases and ALS transgenic mouse models overexpressing ALS-linked SOD1 mutations G93A or L126Z.Results 
                  We observed optineurin-immunoreactive skeinlike inclusions in all the sporadic ALS and familial ALS cases without SOD1 mutation, but not in cases with SOD1 mutations or in transgenic mice overexpressing the ALS-linked SOD1 mutations G93A or L126Z.Conclusion 
                  The data from this study provide evidence that optineurin is involved in the pathogenesis of sporadic ALS and non- SOD1 familial ALS, thus supporting the hypothesis that these forms of ALS share a pathway that is distinct from that of SOD1 -linked ALS.
SN  - 0003-9942
M3  - doi: 10.1001/archneurol.2011.178
UR  - http://dx.doi.org/10.1001/archneurol.2011.178
ER  -