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Article

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.

Neurology - 22 Jan 2013

Gómez-Tortosa Estrella, Gallego Jesús, Guerrero-López Rosa, Marcos Alberto, Gil-Neciga Eulogio, Sainz María José, Díaz Asunción, Franco-Macías Emilio, Trujillo-Tiebas María José, Ayuso Carmen, Pérez-Pérez Julián

Abstract excerpt

OBJECTIVE: Expansions of more than 30 hexanucleotide repetitions in the C9ORF72 gene are a common cause of frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). However, the range of 20-30 repetitions is rarely found and still has unclear significance. A screening of our cohort of cases with FTD (n = 109) revealed 4 mutation carriers (>30 repetitions) but also 5 probands with 20-22 confirmed...

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PMID: 23284068
DOI: 10.1212/WNL.0b013e31827f08ea

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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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