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Article

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2021

van der Ende Emma L, Jackson Jazmyne L, White Adrianna, Seelaar Harro, van Blitterswijk Marka, Van Swieten John C

Abstract excerpt

Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been associated with a wider spectrum of phenotypes, including other types of dementia, movement disorders, psychiatric symptoms and slowly progressive FTD. Prompt recognition of patients with C9orf72-associated diseases is essential in light...

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Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 33452054
DOI: 10.1136/jnnp-2020-325377
PMCID: PMC8053328

Genes

C9ORF72

Provenance

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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