Bergamini L, Pinessi L, Rainero I, Brunetti E, Cerrato P, Cosentino L, Vaula G, Bruni A C, Ermio C, Gei G
Clinica Neurologica, Università di Torino.
Acta Neurol (Napoli). 1991 Dec;13(6):534-8.
We report the genealogical, clinical and molecular genetic findings of a new family with autosomal dominant early-onset Alzheimer's disease (FAD) discovered in Torino (Italy). Up to now, the pedigree comprises 1500 members, distributed in 8 generations. 22 patients affected with Alzheimer's disease have been identified. The clinical course of the disease was fairly uniform in all the patients. An high incidence of myoclonic jerks and epileptic seizures was found. Molecular genetic studies showed the presence of positive but nonsignificant lod scores between chromosome 21 anonymous DNA markers and the disease. The data obtained from the Torino family were computed together with those of additional 47 pedigrees, with both early-onset and late-onset Alzheimer's disease. A predisposing locus for the disease was found on the pericentromeric region of chromosome 21 only in early-onset FAD pedigrees.
我们报告了在意大利都灵发现的一个患有常染色体显性早发性阿尔茨海默病（FAD）的新家族的系谱、临床和分子遗传学研究结果。到目前为止，该家族谱系包含1500名成员，分布在8代人中。已确定22名患有阿尔茨海默病的患者。所有患者的疾病临床过程相当一致。发现肌阵挛性抽搐和癫痫发作的发生率很高。分子遗传学研究表明，21号染色体上的匿名DNA标记与该疾病之间存在阳性但不显著的对数优势分数。将从都灵家族获得的数据与另外47个早发性和晚发性阿尔茨海默病家族谱系的数据一起进行了计算。仅在早发性FAD家族谱系中，在21号染色体的着丝粒周围区域发现了该疾病的一个易感基因座。
