Journal
NEUROCASE
Volume 24, Issue 1, Pages 68-71Publisher
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI: 10.1080/13554794.2018.1428353
Keywords
Slowly progressive behavioral frontotemporal dementia; C9orf72 gene; hexanucleotide expansion; genetics; dementia
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We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55years with depression and personality changes with ongoing worsening (>30years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause. The patient met the diagnostic criteria for possible behavioral frontotemporal dementia with a slow progression (bvFTD-SP), suggesting a benign variant. A genetic study confirmed a C9ORF72 hexanucleotide expansion, making this the sixth case mentioned in the literature. We review and discuss the other cases described previously.
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