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 |
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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)