Hüll M, Fiebich B L, Dykierek P, Schmidtke K, Nitzsche E, Orszagh M, Deuschl G, Moser E, Schumacher M, Lücking C, Berger M, Bauer J
Department of Psychiatry and Psychotherapy, University of Freiburg Medical School, Germany.
Eur Arch Psychiatry Clin Neurosci. 1998;248(3):123-9. doi: 10.1007/s004060050028.
Mutations in the presenilin-1 gene (PS-1 gene) on chromosome 14 have recently been identified as a cause of familial early-onset Alzheimer's disease (EOAD). To our knowledge, only two German EOAD patients with mutations in the PS-1 gene have been identified thus far. Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. The patient came to our clinic for the first time when he was 44 years old. During the following 7 years, his Mini-Mental State Examination (MMSE) score dropped from 24 to 0. Myocloni were an early neurological symptom that was already present during the first consultation. We could demonstrate that myoclonic activity was of cortical origin using a back-averaging method. Magnetic resonance imaging (MRI) revealed only slight changes in the early stage of the disease. Follow-up MRI studies showed progression of bitemporal ventricular enlargement and progressive frontal and temporal cortical atrophy. Although the majority of EOAD patients belong to the sporadic (non-genetic) type of AD, early-onset dementia, early myocloni and a familial history of AD should direct attention to the possibility of a genetic form of AD.
14号染色体上早老素-1基因（PS-1基因）的突变最近被确定为家族性早发型阿尔茨海默病（EOAD）的病因。据我们所知，迄今为止仅发现两名患有PS-1基因突变的德国EOAD患者。在此，我们报告一例有痴呆家族史且PS-1基因第139密码子存在错义突变（M139V）的德国EOAD患者。该患者44岁时首次前来我们诊所就诊。在接下来的7年里，他的简易精神状态检查表（MMSE）评分从24降至0。肌阵挛是早期出现的神经症状，在首次会诊时就已存在。我们使用反向平均法能够证明肌阵挛活动起源于皮层。磁共振成像（MRI）在疾病早期仅显示轻微变化。后续的MRI研究显示双侧颞叶脑室扩大以及额叶和颞叶皮层进行性萎缩。尽管大多数EOAD患者属于散发性（非遗传性）AD类型，但早发型痴呆、早期肌阵挛和AD家族史应促使人们关注遗传性AD的可能性。
