Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
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非典型帕金森氏症基因的基因型 - 表型关系：MDSGENE系统评价。
DOI：
10.1002/mds.28517
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发表时间：
2021-07
影响因子：
8.6
通讯作者：
Klein, Christine
中科院分区：
文献类型：
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作者：
Wittke, Christina;Petkovic, Sonja;Dobricic, Valerija;Schaake, Susen;Respondek, Gesine;Weissbach, Anne;Madoev, Harutyun;Trinh, Joanne;Vollstedt, Eva-Juliane;Kuhnke, Neele;Lohmann, Katja;Mahlow, Marija Dulovic;Marras, Connie;Koenig, Inke R.;Stamelou, Maria;Bonifati, Vincenzo;Lill, Christina M.;Kasten, Meike;Huppertz, Hans-Jurgen;Hoeglinger, Guenter;Klein, Christine
本运动障碍学会基因突变数据库系统综述主要关注单基因非典型帕金森病与ATP13A2、DCTN1、DNAJC6、FBXO7、SYNJ1和VPS13C基因突变。我们筛选了673篇引文，并从77篇出版物中提取了140名患者（73个家族）的基因型和表型数据。以探索性的方式，我们通过集合引导聚合（“袋式”）决策树应用自动分类程序来区分这6种单基因非典型帕金森病，并发现基于以下10个临床变量的准确率高达86.5% (95% CI, 86.3%-86.7%)：发病年龄，痉挛和锥体体征，低通气，体重下降，小锥体，垂直凝视性麻痹，自主神经症状，其他非运动症状，左旋多巴反应量化，认知能力下降。使用来自运动障碍学会基因突变数据库的2063组数据集对SNCA、LRRK2、VPS35、Parkin、PINK1和DJ-1突变患者进行比较，发现单基因非典型帕金森患者的发病年龄更早（24岁vs 40岁；P = 1.2647 × 10−12），左旋多巴反应也不如单基因典型患者（49% vs 93%）。此外，我们使用362例进行性核上凝视性麻痹、皮质基底变性、多系统萎缩或额颞叶变性患者的数据，比较了单基因和非单基因非典型帕金森病。尽管这些疾病与单基因非典型形式有许多共同的临床特征，但它们通常可以根据发病的中位年龄（64岁；IQR， 57-70岁）来区分。总之，发病年龄，特定体征的存在，左旋多巴反应程度，是非典型帕金森病的鉴别诊断考虑和基因检测适应症。
This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated (“bagged”) decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95% CI, 86.3%–86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10−12) and levodopa response less favorable than in patients with monogenic typical presentations (49% vs 93%). In addition, we compared monogenic to nonmonogenic atypical parkinsonism using data from 362 patients with progressive supranuclear gaze palsy, corticobasal degeneration, multiple system atrophy, or frontotemporal lobar degeneration. Although these conditions share many clinical features with the monogenic atypical forms, they can typically be distinguished based on their later median age at onset (64 years; IQR, 57–70 years). In conclusion, age at onset, presence of specific signs, and degree of levodopa response inform differential diagnostic considerations and genetic testing indications in atypical forms of parkinsonism.
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影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
12.7
作者：
Mackenzie IR;Neumann M;Bigio EH;Cairns NJ;Alafuzoff I;Kril J;Kovacs GG;Ghetti B;Halliday G;Holm IE;Ince PG;Kamphorst W;Revesz T;Rozemuller AJ;Kumar-Singh S;Akiyama H;Baborie A;Spina S;Dickson DW;Trojanowski JQ;Mann DM
通讯作者：
Mann DM
影响因子：
11.2
作者：
Olgiati, Simone;Quadri, Marialuisa;Melis, M.
通讯作者：
Melis, M.
影响因子：
4.1
作者：
Cooper, Alex D.;Josephs, Keith A.
通讯作者：
Josephs, Keith A.
DOI：
10.1002/mds.26987
发表时间：
2017-06
期刊：
Movement disorders : official journal of the Movement Disorder Society
影响因子：
--
作者：
Höglinger GU;Respondek G;Stamelou M;Kurz C;Josephs KA;Lang AE;Mollenhauer B;Müller U;Nilsson C;Whitwell JL;Arzberger T;Englund E;Gelpi E;Giese A;Irwin DJ;Meissner WG;Pantelyat A;Rajput A;van Swieten JC;Troakes C;Antonini A;Bhatia KP;Bordelon Y;Compta Y;Corvol JC;Colosimo C;Dickson DW;Dodel R;Ferguson L;Grossman M;Kassubek J;Krismer F;Levin J;Lorenzl S;Morris HR;Nestor P;Oertel WH;Poewe W;Rabinovici G;Rowe JB;Schellenberg GD;Seppi K;van Eimeren T;Wenning GK;Boxer AL;Golbe LI;Litvan I;Movement Disorder Society-endorsed PSP Study Group
通讯作者：
Movement Disorder Society-endorsed PSP Study Group