Poduslo S E, Herring K, Neal M
Department of Neurology, Texas Tech University, Health Sciences Center, Lubbock 79430, USA.
Neuroreport. 1996 Aug 12;7(12):2018-20. doi: 10.1097/00001756-199608120-00033.
Genes on four chromosomes have been associated with Alzheimer's disease. Mutations in the chromosome 14 gene (S182 or presenilin 1) have been linked with an aggressive very early form of the disease while mutations in a chromosome 1 gene (STM2 or presenilin 2) have been linked with Volga German kindreds. When we screened our Alzheimer's patients for the first mutations reported, we only found one in the presenilin 1 gene in an extended family with three affected siblings, all of whom had onset of symptoms in their 4Cs. ApoE and ApoCI genotyping indicated that these risk factors were not associated with the disease in this family. None of our patients with early or late onset disease had the mutation described for presenilin 2.
四条染色体上的基因已被发现与阿尔茨海默病相关。14号染色体基因（S182或早老素1）的突变与一种侵袭性很强的极早期阿尔茨海默病形式有关，而1号染色体基因（STM2或早老素2）的突变则与伏尔加德意志家族相关。当我们对阿尔茨海默病患者进行首次报道的突变筛查时，在一个有三名患病兄弟姐妹的大家庭中，仅在早老素1基因中发现了一例突变，这三名患者均在40多岁时出现症状。载脂蛋白E（ApoE）和载脂蛋白C1（ApoCI）基因分型表明，这些风险因素与该家族的疾病无关。我们所有早发或晚发疾病的患者均未出现早老素2所描述的突变。
