Savioz Armand, Riederer Beat M, Heutink Peter, Rizzu Patrizia, Tolnay Markus, Kövari Enikö, Probst Alphonse, Riederer I rène M, Bouras Constantin, Leuba Geneviève
Department of Psychiatry, University of Geneva School of Medicine, 1225 Geneva, Switzerland.
Neurobiol Dis. 2003 Feb;12(1):46-55. doi: 10.1016/s0969-9961(02)00011-6.
A Swiss frontotemporal dementia (FTD) kindred with extrapyramidal-like features and without motor neuron disease shows a brain pathology with ubiquitin-positive but tau-negative inclusions. Tau and neurofilament modifications are now studied here in three recently deceased family members. No major and specific decrease of tau was observed as described by others in, e.g., sporadic cases of FTD with absence of tau-positive inclusions. However, a slight decrease of tau, neurofilament, and synaptic proteins, resulting from frontal atrophy was detected. In parallel, polymorphic markers on chromosome 17q21-22, the centromeric region of chromosome 3 and chromosome 9, were tested. Haplotype analysis showed several recombination events for chromosomes 3 and 17, but patients shared a haplotype on chromosome 9q21-22. However as one of the patients exhibited Alzheimer and vascular dementia pathology with uncertain concomitant FTD, this locus is questionable. Altogether, these data indicate principally that the Swiss kindred is unlinked to locus 17q21-22, and that tau is not at the origin of FTD in this family.
一个患有锥体外系样特征且无运动神经元病的瑞士额颞叶痴呆（FTD）家族显示出一种脑病理特征，其包含泛素阳性但tau阴性的包涵体。现在对三名最近去世的家族成员的tau和神经丝修饰进行了研究。未观察到如其他人在例如无tau阳性包涵体的散发性FTD病例中所描述的tau的显著和特异性减少。然而，检测到由于额叶萎缩导致的tau、神经丝和突触蛋白的轻微减少。同时，对17号染色体q21 - 22区域、3号染色体着丝粒区域和9号染色体上的多态性标记进行了检测。单倍型分析显示3号和17号染色体有几个重组事件，但患者在9号染色体q21 - 22区域共享一个单倍型。然而，由于其中一名患者表现出阿尔茨海默病和血管性痴呆病理，同时伴有不确定的FTD，这个基因座存在疑问。总体而言，这些数据主要表明瑞士家族与17号染色体q21 - 22区域无关，并且tau不是该家族FTD的病因。
