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Arch Neurol. 2011 Aug;68(8):1057-61. doi: 10.1001/archneurol.2011.178.

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

Author information

1
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. h-deng@northwestern.edu

Abstract

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.

PMID:
21825243
PMCID:
PMC3357952
DOI:
10.1001/archneurol.2011.178
[Indexed for MEDLINE]
Free PMC Article

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