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Article

Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease.

European journal of neurology - 1 Mar 2021

Klotz Sigrid, König Theresa, Erdler Marcus, Ulram Andreas, Nguyen Anita, Ströbel Thomas, Zimprich Alexander, Stögmann Elisabeth, Regelsberger Günther, Höftberger Romana, Budka Herbert, Kovacs Gabor G, Gelpi Ellen

Abstract excerpt

BACKGROUND: The C9orf72 hexanucleotide expansion mutation is the most common cause of genetic frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and combined FTD-ALS. Its underlying neuropathology combines TDP-43 pathology and dipeptide repeat protein (DPR) deposits and may also associate with other neurodegeneration-associated protein aggregates. Herein we present a unique combination of C9orf72...

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Identifiers

PMID: 33131137
DOI: 10.1111/ene.14621
PMCID: PMC7898301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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