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

Han Xiang Deng, Eileen H. Bigio, Hong Zhai, Faisal Fecto, Kaouther Ajroud, Yong Shi, Jianhua Yan, Manjari Mishra, Senda Ajroud-Driss, Scott Heller, Robert Sufit, Nailah Siddique, Enrico Mugnaini, Teepu Siddique*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1057-1061
Number of pages5
JournalArchives of Neurology
Issue number8
StatePublished - Aug 2011

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)


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