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.
Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion / G. Talarico, M. Canevelli, G. Tosto, P. Piscopo, A. Confaloni, D. Galimberti, C. Fenoglio, E. Scarpini, M. Gasparini, G. Bruno. - In: NEUROCASE. - ISSN 1355-4794. - 21:5(2015), pp. 543-547. [10.1080/13554794.2014.951056]
Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion
D. Galimberti;C. Fenoglio;E. Scarpini;
2015
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.File | Dimensione | Formato | |
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