title: Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion.
abstract: An expanded hexanucleotide (GGGGCC) repeat in a non-coding promoter region of open reading frame 72 of chromosome 9 (C9ORF72) has been recently identified as a major cause of familial and sporadic frontotemporal lobar degeneration. We describe the clinical picture of a 64-year-old woman carrying the hexanucleotide repeat expansion, who developed a sporadic early-onset form of behavioral variant frontotemporal dementia characterized by the occurrence of uncommon behavioral manifestations such as binge eating disturbance and by a rapid worsening of cognitive abilities. Our report confirms previous studies asserting that C9ORF72 repeats may sustain heterogeneous clinical syndromes.
authors.affiliation: a Memory Clinic, Department of Neurology and Psychiatry , University "Sapienza" , Rome , Italy.
authors.forename: G
authors.initials: G
authors.lastname: Talarico
authors.forename: M
authors.initials: M
authors.lastname: Canevelli
authors.forename: G
authors.initials: G
authors.lastname: Tosto
authors.forename: P
authors.initials: P
authors.lastname: Piscopo
authors.forename: A
authors.initials: A
authors.lastname: Confaloni
authors.forename: D
authors.initials: D
authors.lastname: Galimberti
authors.forename: C
authors.initials: C
authors.lastname: Fenoglio
authors.forename: E
authors.initials: E
authors.lastname: Scarpini
authors.forename: M
authors.initials: M
authors.lastname: Gasparini
authors.forename: G
authors.initials: G
authors.lastname: Bruno
mesh_terms: D001921:Brain / Q000473:pathology; D002032:Bulimia / Q000150:complications* / Q000235:genetics; D000073885:C9orf72 Protein; D003071:Cognition; D042622:DNA Repeat Expansion; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D006801:Humans; D008875:Middle Aged; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: C9ORF72 repeats; behavioral disturbances in dementia; behavioral variant frontotemporal dementia; binge eating disorder in frontotemporal dementia; frontotemporal dementia associated with C9ORF72