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Article

A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Aug 2022

King Andrew, Lee Yuan Kai, Jones Shalmai, Troakes Claire

Abstract excerpt

Hexanucleotide repeat expansions in C9orf72 account for a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. There have been occasional reported cases associated with this expansion but also additional extrapyramidal clinical features. However, only very rarely has there been pathological confirmation of a parkinsonian syndrome associated with a C9orf72 repeat...

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Identifiers

PMID: 35746899
DOI: 10.1111/neup.12808
PMCID: PMC9541494

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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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