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Article

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Acta neuropathologica - 1 Sept 2013

Fratta Pietro, Poulter Mark, Lashley Tammaryn, Rohrer Jonathan D, Polke James M, Beck Jon, Ryan Natalie, Hensman Davina, Mizielinska Sarah, Waite Adrian J, Lai Mang-Ching, Gendron Tania F, Petrucelli Leonard, Fisher Elizabeth M C, Revesz Tamas, Warren Jason D, Collinge John, Isaacs Adrian M, Mead Simon

Abstract excerpt

An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). We now report the first description of a homozygous patient and compare it to a series of heterozygous cases. The patient developed early-onset frontotemporal dementia without additional features. Neuropathological analysis showed c9FTD/ALS...

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Identifiers

PMID: 23818065
DOI: 10.1007/s00401-013-1147-0
PMCID: PMC3753468

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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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