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Article

Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2024

Peverelli Silvia, Brusati Alberto, Casiraghi Valeria, Sorce Marta Nice, Invernizzi Sabrina, Santangelo Serena, Morelli Claudia, Verde Federico, Silani Vincenzo, Ticozzi Nicola, Ratti Antonia

Abstract excerpt

The C9orf72 hexanucleotide repeat (HR) expansion is the main genetic cause of amyotrophic lateral sclerosis (ALS), with expansion size from 30 to >4000 units. Normal C9orf72 HR length is polymorphic (2-23 repeats) with alleles >8 units showing a low frequency in the general population. This study aimed to investigate if the normal C9orf72 HR length influences C9orf72 gene expression and acts as disease modifier...

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PMID: 38099605
DOI: 10.1080/21678421.2023.2273965

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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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