Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation

Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Chiara Villa, Rossana Bonsi, Andrea Arighi, Giorgio G. Fumagalli, Roberto Del Bo, Amalia C. Bruni, Maria Anfossi, Alessandra Clodomiro, Chiara Cupidi, Benedetta Nacmias, Sandro Sorbi, Irene Piaceri, Silvia Bagnoli, Valentina Bessi, Alessandra Marcone, Chiara Cerami, Stefano F. CappaMassimo Filippi, Federica Agosta, Giuseppe Magnani, Giancarlo Comi, Massimo Franceschi, Innocenzo Rainero, Maria Teresa Giordana, Elisa Rubino, Patrizia Ferrero, Ekaterina Rogaeva, Zhengrui Xi, Annamaria Confaloni, Paola Piscopo, Giuseppe Bruno, Giuseppina Talarico, Annachiara Cagnin, Francesca Clerici, Bernardo Dell'Osso, Giacomo P. Comi, A. Carlo Altamura, Claudio Mariani, Elio Scarpini

Research output: Contribution to journalArticlepeer-review

Abstract

Background: 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 (FTLD). Atypical presentations have been described, particularly psychosis. Methods: We determined the frequency of the hexanucleotide repeat expansions in a population of 651 FTLD patients and compared the clinical characteristics of carriers and noncarriers. In addition, we genotyped 21 patients with corticobasal syndrome, 31 patients with progressive supranuclear palsy, and 222 control subjects. Results: The pathogenic repeat expansion was detected in 39 (6%) patients with FTLD (17 male and 22 female subjects); however, it was not detected in any corticobasal syndrome and progressive supranuclear palsy patients or controls. Twenty-four of 39 carriers had positive family history for dementia and/or amyotrophic lateral sclerosis (61.5%), whereas only 145 of 612 noncarriers had positive family history (23.7%; p

Original languageEnglish
Pages (from-to)384-391
Number of pages8
JournalBiological Psychiatry
Volume74
Issue number5
DOIs
Publication statusPublished - Sep 1 2013

Keywords

  • C9ORF72
  • clinical presentation
  • dementia
  • frontotemporal lobar degeneration
  • hexanucleotide repeat expansion
  • late onset psychosis
  • phenotype

ASJC Scopus subject areas

  • Biological Psychiatry

Fingerprint Dive into the research topics of 'Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation'. Together they form a unique fingerprint.

Cite this