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Article

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.

Journal of Alzheimer's disease : JAD - 1 Jan 2012

Arighi Andrea, Fumagalli Giorgio G, Jacini Francesca, Fenoglio Chiara, Ghezzi Laura, Pietroboni Anna M, De Riz Milena, Serpente Maria, Ridolfi Elisa, Bonsi Rossana, Bresolin Nereo, Scarpini Elio, Galimberti Daniela

Abstract excerpt

A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. Here, we report on three cases carrying the hexanucleotide repeat expansion with an atypical presentation consisting in the...

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Identifiers

PMID: 22571983
DOI: 10.3233/JAD-2012-120523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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