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同一地理和种族起源的两个家族中的家族性阿尔茨海默病。一项临床和遗传学研究。

Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study.

作者信息

Goudsmit J, White B J, Weitkamp L R, Keats B J, Morrow C H, Gajdusek D C

出版信息

J Neurol Sci. 1981 Jan;49(1):79-89. doi: 10.1016/0022-510x(81)90190-8.

Abstract

Alzheimer's disease (AD) occurred in 37 individuals from two kindreds of Jewish ancestry with a mode of transmission suggesting an autosomal dominant genetic trait. Both kindreds originated from Byelorussia and spoke the Lithuanian dialect of Yiddish. In one of the two families one case of pathologically confirmed AD occurred with clinical and neuropathological signs of Parkinson's disease. In the other family one case of amyotrophic lateral sclerosis and one case of Down's syndrome occurred, both without clinical or pathological signs of AD. In the single kindred tested, a study of the chromosome 6 markers HLA, Bf and GLO failed to reveal a correlation between the transmission of AD and the segregation of these markers. The association of increased aneuploidy of peripheral blood chromosomes with AD was not confirmed in either of these families. Genetic differences between the familial and the sporadic form of AD are discussed.

摘要

阿尔茨海默病(AD)发生在两个犹太裔血统的家族中的37人身上,其遗传模式提示为常染色体显性遗传特征。这两个家族均来自白俄罗斯,说立陶宛语的意第绪方言。在这两个家族中的一个家族中,有一例经病理证实的AD患者出现了帕金森病的临床和神经病理体征。在另一个家族中,出现了一例肌萎缩侧索硬化症和一例唐氏综合征患者,两者均无AD的临床或病理体征。在检测的单个家族中,对6号染色体标记HLA、Bf和GLO的研究未能揭示AD的遗传与这些标记的分离之间存在相关性。在这两个家族中,均未证实外周血染色体非整倍体增加与AD之间存在关联。文中讨论了家族性AD和散发性AD之间的遗传差异。

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