Jimenez-Escrig A, Rabano A, Guerrero C, Simon J, Barquero M S, Güell I, Ginestal R C, Montero T, Orensanz L
Hospital Ramon y Cajal, Universidad de Alcala, Madrid, Spain.
Eur J Neurol. 2004 Oct;11(10):663-9. doi: 10.1111/j.1468-1331.2004.00865.x.
In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study, as well as the neuroimaging and PET in the proband were concordant with a subcortical dementia. The cerebral pathology showed in this patient, aside from the classical lesions of Alzheimer disease, Lewy bodies in cortex and substantia nigra, and widespread subcortical neuritic lesions. This clinical pattern and pathology expands the clinical spectrum of familial Alzheimer's disease and compel to include mutations of PSEN1 gene in the genetic study of subcortical dementia.
在本报告中，我们呈现了一个家族中四名携带早老素1基因（PSEN1）新型错义突变（V272A）且患有皮质下痴呆的个体的临床和病理细节。症状出现的年龄范围为26至36岁，死亡年龄为36至46岁。初始症状为明显的情绪障碍，其中一例伴有显著的帕金森症。先证者的神经心理学研究以及神经影像学和PET检查结果均与皮质下痴呆相符。该患者的脑病理学检查显示，除了阿尔茨海默病的典型病变外，还存在皮质和黑质中的路易小体以及广泛的皮质下神经炎病变。这种临床模式和病理改变扩展了家族性阿尔茨海默病的临床谱，并促使在皮质下痴呆的基因研究中纳入PSEN1基因的突变情况。
