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Article

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

Neurobiology of aging - 1 Apr 2018

Goldstein Orly, Gana-Weisz Mali, Nefussy Beatrice, Vainer Batel, Nayshool Omri, Bar-Shira Anat, Traynor Bryan J, Drory Vivian E, Orr-Urtreger Avi

Abstract excerpt

We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001)....

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Identifiers

PMID: 29352617
DOI: 10.1016/j.neurobiolaging.2017.12.015
PMCID: PMC5931221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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