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Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes
Neuropathology and Applied Neurobiology ( IF 5 ) Pub Date : 2020-11-05 , DOI: 10.1111/nan.12670
Isabel Hernandez 1, 2 , Ellen Gelpi 3, 4 , Laura Molina-Porcel 4 , Sara Bernal 5, 6 , Benjamín Rodríguez-Santiago 5, 6 , Oriol Dols-Icardo 2, 7 , Agustín Ruiz 1, 2 , Daniel Alcolea 2, 7 , Mercè Boada 1, 2 , Alberto Lleó 2, 7 , Jordi Clarimón 2, 7
Affiliation  

A rare APOE variant, named APOE3 Christchurch (APOEch) [1], yielding a missense mutation from Arginine to Serine at amino acid 136 (corresponding to codon 154), has been recently found in some members of a large Colombian kindred with autosomal dominant Alzheimer's disease (ADAD) due to an E280A mutation in PSEN1 [2]. The authors described a woman homozygous for the APOEch, who did not develop mild cognitive impairment (MCI) until her seventies, almost 30 years after the typical age of onset related to the PSEN1 mutation [3].

中文翻译:

杂合子 APOE Christchurch 在家族性阿尔茨海默病中没有其他孟德尔基因突变

一种罕见的 APOE 变体,命名为 APOE3 Christchurch (APOEch) [1],在 136 位氨基酸(对应于密码子 154)处产生从精氨酸到丝氨酸的错义突变,最近在哥伦比亚一个大家族的一些成员中发现了常染色体显性阿尔茨海默氏症PSEN1 中的 E280A 突变引起的疾病 (ADAD) [2]。作者描述了一名 APOEch 纯合子女性,她直到 70 岁才出现轻度认知障碍 (MCI),在与 PSEN1 突变相关的典型发病年龄近 30 年后[3]。
更新日期:2020-11-05
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