Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

doi:10.1016/j.ajhg.2013.01.011

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Article

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

American journal of human genetics - 7 Mar 2013

Beck Jon, Poulter Mark, Hensman Davina, Rohrer Jonathan D, Mahoney Colin J, Adamson Gary, Campbell Tracy, Uphill James, Borg Aaron, Fratta Pietro, Orrell Richard W, Malaspina Andrea, Rowe James, Brown Jeremy, Hodges John, Sidle Katie, Polke James M, Houlden Henry, Schott Jonathan M, Fox Nick C, Rossor Martin N, Tabrizi Sarah J, Isaacs Adrian M, Hardy John, Warren Jason D, Collinge John, Mead Simon

Abstract excerpt

Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease mechanisms and a method for clinical diagnostic genotyping have been hindered because of the difficulty in estimating the expansion size. We found 96 repeat-primed PCR expansions: 85/2,974 in six neurodegenerative diseases cohorts (FTLD, ALS,...

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PMID: 23434116
DOI: 10.1016/j.ajhg.2013.01.011
PMCID: PMC3591848

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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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