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 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. PMID: 29355451 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29355451?dopt=Abstract

Source: Neurocase - January 22, 2018 Category: Neurology Authors: Llamas-Velasco S, García-Redondo A, Herrero-San Martín A, Puertas Martín V, González-Sánchez M, Pérez-Martínez DA, Villarejo-Galende A Tags: Neurocase Source Type: research