Genetic architecture of common non-Alzheimer's disease dementias.
Genetic architecture of common non-Alzheimer's disease dementias.
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DOI：
10.1016/j.nbd.2020.104946
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发表时间：
2020-08
影响因子：
6.1
通讯作者：
Bras J
中科院分区：
文献类型：
--
作者：
Guerreiro R;Gibbons E;Tábuas-Pereira M;Kun-Rodrigues C;Santo GC;Bras J
额颞性痴呆(FTD)、路易体痴呆(DLB)和血管性痴呆(VAD)是继阿尔茨海默病(AD)之后最常见的痴呆形式。这些疾病的异质性和/或与其他疾病的临床重叠阻碍了对其遗传成分的研究。尽管孟德尔痴呆症很罕见，但对这些形式的疾病的研究可以对患者和家人的生活产生重大影响，并成功地将许多目前已知的与FTD和VAD有关的基因提出来，开始让我们一窥这些表型背后的分子机制。最近，全基因组关联研究也指出了疾病风险相关基因。这对于家族性疾病很少被描述的DLB来说尤其重要。在这篇综述中，我们系统地描述了这些非AD痴呆所涉及的孟德尔基因和风险基因，以努力更好地了解它们的遗传结构，找到不同痴呆表型之间的差异和共同点，并揭示将从更密集的研究努力中受益的领域。
Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer’s disease (AD). The heterogeneity of these disorders and/or the clinical overlap with other diseases hinder the study of their genetic components. Even though Mendelian dementias are rare, the study of these forms of disease can have a significant impact in the lives of patients and families and have successfully brought to the fore many of the genes currently known to be involved in FTD and VaD, starting to give us a glimpse of the molecular mechanisms underlying these phenotypes. More recently, genome-wide association studies have also pointed to disease risk-associated loci. This has been particularly important for DLB where familial forms of disease are very rarely described. In this review we systematically describe the Mendelian and risk genes involved in these non-AD dementias in an effort to contribute to a better understanding of their genetic architecture, find differences and commonalities between different dementia phenotypes, and uncover areas that would benefit from more intense research endeavors.
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影响因子：
15.1
作者：
Caillet-Boudin ML;Buée L;Sergeant N;Lefebvre B
通讯作者：
Lefebvre B
DOI：
10.1212/nxg.0000000000000080
发表时间：
2016-06
期刊：
Neurology. Genetics
影响因子：
--
作者：
Caroppo P;Camuzat A;Guillot-Noel L;Thomas-Antérion C;Couratier P;Wong TH;Teichmann M;Golfier V;Auriacombe S;Belliard S;Laurent B;Lattante S;Millecamps S;Clot F;Dubois B;van Swieten JC;Brice A;Le Ber I
通讯作者：
Le Ber I
影响因子：
3.5
作者：
Bras J;Guerreiro R;Darwent L;Parkkinen L;Ansorge O;Escott-Price V;Hernandez DG;Nalls MA;Clark LN;Honig LS;Marder K;Van Der Flier WM;Lemstra A;Scheltens P;Rogaeva E;St George-Hyslop P;Londos E;Zetterberg H;Ortega-Cubero S;Pastor P;Ferman TJ;Graff-Radford NR;Ross OA;Barber I;Braae A;Brown K;Morgan K;Maetzler W;Berg D;Troakes C;Al-Sarraj S;Lashley T;Compta Y;Revesz T;Lees A;Cairns N;Halliday GM;Mann D;Pickering-Brown S;Dickson DW;Singleton A;Hardy J
通讯作者：
Hardy J
影响因子：
9.9
作者：
Boot, Brendon P.;Orr, Carolyn F.;Boeve, Bradley F.
通讯作者：
Boeve, Bradley F.
影响因子：
2.5
作者：
Berge-Seidl, Victoria;Pihlstrom, Lasse;Toft, Mathias
通讯作者：
Toft, Mathias