Mendez Mario F, McMurtray Aaron
Neurobehavior Unit, VA Greater Los Angeles Healthcare, CA 90073, USA.
Am J Alzheimers Dis Other Demen. 2006 Aug-Sep;21(4):281-6. doi: 10.1177/1533317506290448.
Frontal behavioral changes may be the presenting features of single-photon emission tomography (presenilin-1 [PS-1]) mutations, the most common cause of familial Alzheimer's disease (AD). The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature. PS-1 mutations may produce FTD-like phenotypes with the neuropathology of AD. Some PS-1 mutations have additional Pick's bodies, a neuropathological marker of FTD, and a report of a PS-1 (G183V) mutation found Pick's bodies without amyloid plaques. The patient and the literature suggest that PS-1 mutations result in an overlapping continuum of the clinical and neuropathological features of AD and FTD. In PS-1 mutations, the expression of AD or FTD may depend on the degree of loss of function of the PS-1 gene and the resultant tau pathophysiology.
额叶行为改变可能是单光子发射断层扫描（早老素-1 [PS-1]）突变的表现特征，而PS-1突变是家族性阿尔茨海默病（AD）最常见的病因。作者描述了一种具有额颞叶痴呆（FTD）特征的PS-1（M233L）突变，并对相关文献进行了综述。PS-1突变可能产生具有AD神经病理学特征的FTD样表型。一些PS-1突变有额外的Pick小体，这是FTD的一种神经病理学标志物，并且有一份关于PS-1（G183V）突变的报告发现了没有淀粉样斑块的Pick小体。该患者及相关文献表明，PS-1突变导致AD和FTD的临床及神经病理学特征存在重叠的连续谱。在PS-1突变中，AD或FTD的表现可能取决于PS-1基因功能丧失的程度以及由此产生的tau病理生理学。
