Llamas-Velasco S, García-Redondo A, Herrero-San Martín A, Puertas Martín V, González-Sánchez M, Pérez-Martínez D A, Villarejo-Galende A
a Department of Neurology , Hospital Universitario 12 de Octubre , Madrid , Spain.
b Imas12. CIBERNED , Madrid , Spain.
Neurocase. 2018 Feb;24(1):68-71. doi: 10.1080/13554794.2018.1428353. Epub 2018 Jan 22.
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.
我们报告了一位86岁无相关病史的女性，她有两个兄弟死于痴呆症，他们从55岁开始出现抑郁和人格改变，病情持续恶化（超过30年）且功能衰退。痴呆症血液检查和脑部磁共振成像未显示指向继发性病因的结果。该患者符合可能的行为性额颞叶痴呆伴缓慢进展（bvFTD-SP）的诊断标准，提示为一种良性变异型。基因研究证实存在C9ORF72六核苷酸重复扩增，这使其成为文献中提及的第六例。我们回顾并讨论了先前描述的其他病例。
