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Article

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2020

Hideshima Makoto, Beck Goichi, Yamadera Misaki, Motoyama Yuichi, Ikenaka Kensuke, Kakuda Keita, Tsuda Hiroshi, Nagano Seiichi, Fujimura Harutoshi, Morii Eiichi, Murayama Shigeo, Mochizuki Hideki

Abstract excerpt

We report an autopsy case of amyotrophic lateral sclerosis with L126S mutation in the superoxide dismutase 1 (SOD1) gene (SOD1). The patient was a 69-year-old Japanese man without relevant family history, who initially presented with slow progressive muscle weakness of the lower extremities without upper motor neuron signs, and died of respiratory failure 6 years after the onset. Neuropathological examination...

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PMID: 31863610
DOI: 10.1111/neup.12620

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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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