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Article

Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2022

Ratti Antonia, Peverelli Silvia, D'Adda Elisabetta, Colombrita Claudia, Gennuso Michele, Prelle Alessandro, Silani Vincenzo

Abstract excerpt

Objective: The presence of the hexanucleotide repeat expansion (HRE) in C9orf72 gene is associated to the ALS/FTD spectrum, but also to parkinsonisms. We here describe an Italian family with the father diagnosed with Parkinson disease (PD) at the age of 67 and the two daughters developing FTD and ALS at 45 years of age. We searched for C9orf72 HRE with possible genetic and epigenetic modifiers to account for the...

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Identifiers

PMID: 34382491
DOI: 10.1080/21678421.2021.1962355

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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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