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.
| Original language | English |
|---|---|
| Pages (from-to) | 543-547 |
| Number of pages | 5 |
| Journal | Neurocase |
| Volume | 21 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Sep 3 2015 |
Keywords
- behavioral disturbances in dementia
- behavioral variant frontotemporal dementia
- binge eating disorder in frontotemporal dementia
- C9ORF72 repeats
- frontotemporal dementia associated with C9ORF72
ASJC Scopus subject areas
- Clinical Neurology
- Arts and Humanities (miscellaneous)
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Talarico, G., Canevelli, M., Tosto, G., Piscopo, P., Confaloni, A., Galimberti, D., Fenoglio, C., Scarpini, E., Gasparini, M., & Bruno, G. (2015). Binge eating and fast cognitive worsening in an early-onset bvFTD patient carrying C9ORF72 expansion. Neurocase, 21(5), 543-547. https://doi.org/10.1080/13554794.2014.951056