临床实践中的痴呆症遗传研究。
Genetic investigation of dementias in clinical practice.
机构信息
, Faculdade de Medicina, Hospital das Clinicas, Divisão de Clínica Neurológica, São Paulo SP, Brazil.
出版信息
Arq Neuropsiquiatr. 2022 May;80(5 Suppl 1):36-41. doi: 10.1590/0004-282X-ANP-2022-S103.
BACKGROUND
The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia).
OBJECTIVE
to provide a brief review of the most recent discoveries regarding monogenic dementia, and covering the most frequent genetic diseases that can cause dementia (neurodegenerative or not).
METHODS
a review of the literature will be carried out.
RESULTS
neurodegenerative dementias, vascular dementias and leukoencephalopathies caused by single pathogenic variants are presented.
CONCLUSION
The spectrum of clinical presentations for most of the genes discussed is wide, and hence genetic testing in clinic should try to cover as many genes as possible.
背景
在过去的二十年中，神经退行性痴呆遗传学领域取得了重大进展，但仍有更多的发现有待探索（例如某些家族性痴呆形式的基因突变）。
目的
简要回顾最近关于单基因痴呆的发现，并涵盖可引起痴呆（神经退行性或非神经退行性）的最常见遗传疾病。
方法
将对文献进行回顾。
结果
介绍了由单一致病性变异引起的神经退行性痴呆、血管性痴呆和白质脑病。
结论
讨论的大多数基因的临床表现谱很广，因此临床中的基因检测应尽可能涵盖尽可能多的基因。
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