Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion

• Published in: Neurocase Vol. 21; no. 5; pp. 543 - 547
• Main Authors: Talarico, G, Canevelli, M, Tosto, G, Piscopo, P, Confaloni, A, Galimberti, D, Fenoglio, C, Scarpini, E, Gasparini, M, Bruno, G
• Format: Journal Article
• Language: English
• Published: England 03.09.2015
• Subjects: Brain - pathology; Bulimia - complications; Bulimia - genetics; C9orf72 Protein; Cognition; DNA Repeat Expansion; Female; Frontotemporal Dementia - complications; Frontotemporal Dementia - diagnosis; Frontotemporal Dementia - genetics; Frontotemporal Dementia - psychology; Humans; Middle Aged; Promoter Regions, Genetic; Proteins - genetics; behavioral variant frontotemporal dementia; C9ORF72 repeats; behavioral disturbances in dementia; binge eating disorder in frontotemporal dementia; frontotemporal dementia associated with C9ORF72
• ISSN: 1355-4794; 1465-3656
• DOI: 10.1080/13554794.2014.951056

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.