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

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

Research output: Contribution to journalArticle

Abstract

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 development of psychiatric symptoms. Patient #num;1, a 53 year old man with positive family history for dementia, presented with mood deflection, characterized by apathy, social withdraw, and irritability in the last two years. He was diagnosed with "mild cognitive impairment due to depressive syndrome" six months later and subsequently with Alzheimer's disease. Patient #num;2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #num;3 presented, in the absence of brain atrophy, with mystical delirium with auditory hallucinations at 44 years of age, and did not present neurological symptoms over a 7-year follow up. The description of these cases underlines that the hexanucleotide repeat expansion in chromosome 9 could be associated with early onset psychiatric presentations.

Original languageEnglish
Pages (from-to)447-452
Number of pages6
JournalJournal of Alzheimer's Disease
Volume31
Issue number2
DOIs
Publication statusPublished - 2012

Keywords

  • C9ORF72 hexanucleotide repeat expansion
  • delirium
  • dementia
  • frontotemporal lobar degeneration
  • psychosis

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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