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

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...

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Bibliographic Details
Published in:Neurocase 2015-09, Vol.21 (5), p.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: Article
Language:English
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
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Summary: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.
ISSN:1355-4794
1465-3656
DOI:10.1080/13554794.2014.951056