title: Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.
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 #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 #2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #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.
authors.affiliation: Department of Neurological Sciences, University of Milan, Dino Ferrari Center, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Arighi
authors.forename: Giorgio G
authors.initials: GG
authors.lastname: Fumagalli
authors.forename: Francesca
authors.initials: F
authors.lastname: Jacini
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Laura
authors.initials: L
authors.lastname: Ghezzi
authors.forename: Anna M
authors.initials: AM
authors.lastname: Pietroboni
authors.forename: Milena
authors.initials: M
authors.lastname: De Riz
authors.forename: Maria
authors.initials: M
authors.lastname: Serpente
authors.forename: Elisa
authors.initials: E
authors.lastname: Ridolfi
authors.forename: Rossana
authors.initials: R
authors.lastname: Bonsi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
mesh_terms: D000328:Adult; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins