Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature

We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did...

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Bibliographic Details
Published in:Neurocase 2018-02, Vol.24 (1), p.68-71
Main Authors: Llamas-Velasco, S., García-Redondo, A., Herrero-San Martín, A., Puertas Martín, V., González- Sánchez, M., Pérez-Martínez, D. A., Villarejo-Galende, A.
Format: Article
Language:English
Subjects:
Aged, 80 and over
C9orf72 gene
C9orf72 Protein - genetics
Case reports
Dementia
Dementia disorders
Disease Progression
Female
Frontotemporal dementia
Frontotemporal Dementia - genetics
genetics
hexanucleotide expansion
Humans
Literature reviews
Magnetic resonance imaging
Mutation - genetics
Neuroimaging
NMR
Nuclear magnetic resonance
Slowly progressive behavioral frontotemporal dementia
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Summary:We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) 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.
ISSN:1355-4794
1465-3656
1362-4970
DOI:10.1080/13554794.2018.1428353