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Article

Early life involvement in C9orf72 repeat expansion carriers.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2022

Gossink Flora, Dols Annemiek, Stek Max L, Scheltens Philip, Nijmeijer Bas, Cohn Hokke Petra, Dijkstra Anke, Van Ruissen Fred, Aalfs Cora, Pijnenburg Yolande A L

Abstract excerpt

OBJECTIVES: The chromosome 9 open reading frame 72 gene (C9orf72) hexanucleotide repeat expansion (C9orf72RE) is the most common genetic cause of behavioural variant frontotemporal dementia (bvFTD). Since the onset of the C9orf72RE-associated disease is sometimes hard to define, we hypothesise that C9orf72RE may cause a lifelong neuropsychiatric vulnerability. The first aim of our study was to explore lifelong...

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Identifiers

PMID: 33906932
DOI: 10.1136/jnnp-2020-325994

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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