Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
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 …
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 …