Department of Neurology, Medical University, Sofia, Bulgaria.
Am J Alzheimers Dis Other Demen. 2009 Oct-Nov;24(5):404-7. doi: 10.1177/1533317509341464.
We describe the phenotype of a Bulgarian early-onset Alzheimer's disease (EOAD) family with 3 affected patients in 3 generations. In the proband, a novel L381V mutation in the presenilin1 (PSEN1) gene was identified. In this patient, the first symptoms were noticed at the age of 32 years and she died at the age of 37 years. The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer's disease patients.
我们描述了一个保加利亚早发性阿尔茨海默病（EOAD）家族的表型，该家族有 3 名患者分布于 3 代。在先证者中，发现了早老素 1（PSEN1）基因中的新型 L381V 突变。在该患者中，首发症状于 32 岁时出现，她于 37 岁时死亡。由 PSEN1 基因中的新型 L381V 突变引起的 EOAD 表型在临床上表现为：先证者的发病年龄极早，痴呆进展迅速，痉挛性截瘫和锥体外系体征，这些都是阿尔茨海默病患者的非典型临床特征。
