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Article

Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.

Journal of neuropathology and experimental neurology - 1 Feb 2018

Ayaki Takashi, Ito Hidefumi, Komure Osamu, Kamada Masaki, Nakamura Masataka, Wate Reika, Kusaka Hirofumi, Yamaguchi Yuko, Li Fangzhou, Kawakami Hideshi, Urushitani Makoto, Takahashi Ryosuke

Abstract excerpt

Optineurin (OPTN) is a causative gene in familial amyotrophic lateral sclerosis (ALS) with transactivation response element DNA-binding protein of 43 kDa (TDP-43) protein pathology. Here, we report multiple proteinopathies in familial ALS cases with OPTN mutations. We examined the TDP-43, tau, and α-synuclein pathology of ALS cases with OPTN mutations including 2 previously reported cases (Cases 1 and 2) and 1...

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Identifiers

PMID: 29272468
DOI: 10.1093/jnen/nlx109

Genes

OPTN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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