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散发性(晚发型)和遗传性阿尔茨海默病的临床及神经病理学特征

The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.

作者信息

Rujeedawa Tanzil, Carrillo Félez Eva, Clare Isabel C H, Fortea Juan, Strydom Andre, Rebillat Anne-Sophie, Coppus Antonia, Levin Johannes, Zaman Shahid H

机构信息

Cambridge Intellectual & Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge CB2 8PQ, UK.

Cambridgeshire and Peterborough Foundation NHS Trust, Fulbourn CB21 5EF, UK.

出版信息

J Clin Med. 2021 Oct 3;10(19):4582. doi: 10.3390/jcm10194582.

Abstract

The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer's disease: Down syndrome-associated Alzheimer's disease in (DSAD) and Autosomal Dominant Alzheimer's disease (ADAD) are compared with the late-onset form of the disease (LOAD). DSAD and ADAD present in a younger population and are more likely to manifest with non-amnestic (such as dysexecutive function features) in the prodromal phase or neurological features (such as seizures and paralysis) especially in ADAD. The very large variety of mutations associated with ADAD explains the wider range of phenotypes. In the LOAD, age-associated comorbidities explain many of the phenotypic differences.

摘要

本综述的目的是比较并突出遗传性与后天性阿尔茨海默病在临床和病理方面的特点

将唐氏综合征相关的阿尔茨海默病(DSAD)和常染色体显性遗传性阿尔茨海默病(ADAD)与晚发型阿尔茨海默病(LOAD)进行比较。DSAD和ADAD多见于较年轻人群,在疾病前驱期更易表现出非遗忘性症状(如执行功能障碍特征)或神经学特征(如癫痫发作和瘫痪),尤其是ADAD。与ADAD相关的大量突变解释了其更广泛的表型范围。在LOAD中,与年龄相关的合并症解释了许多表型差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e59/8509365/557de9578fde/jcm-10-04582-g001.jpg

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