棉兰老岛X连锁肌张力障碍-帕金森综合征队列中的临床人口统计学与基因修饰因子相关性
Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.
作者信息
Doquenia Maria Leila M, Dy Closas Alfand Marl F, Algodon Shela Marie, Suarez-Uy Rachel, Ng Arlene, Laabs Björn-Hergen, Westenberger Ana, Brüggemann Norbert, Rosales Raymond L, Jamora Roland Dominic, Klein Christine
机构信息
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Department of Neuroscience and Brain Health, Metropolitan Medical Center, Manila, Philippines.
出版信息
Mov Disord Clin Pract. 2024 Dec;11(12):1604-1608. doi: 10.1002/mdc3.14193. Epub 2024 Oct 14.
BACKGROUND
X-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.
OBJECTIVE
The aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.
METHODS
We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.
RESULTS
The XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.
CONCLUSION
The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.
背景
X连锁肌张力障碍-帕金森综合征（XDP）是一种在菲律宾流行的神经退行性运动障碍，主要在班乃岛和大马尼拉地区的患者中进行研究。然而，与早期报告中记录的患者相比，居住在地理上遥远地区的个体可能表现出不同的临床或遗传特征。
目的
旨在研究棉兰老岛队列中XDP临床特征与发病年龄（AAO）变异性修饰因子的关系，并应用先前报道的AAO模型。
方法
我们调查了来自棉兰老岛南部的27例XDP患者的临床和遗传特征。对所有患者进行了与AAO相关的4种多态性基因分型。
结果
在27例患者中，与XDP相关的六核苷酸重复数与AAO显著相关，解释了约68%的AAO变异性。预测的AAO与实际的AAO之间无统计学差异。
结论
AAO模型通过利用AAO变异性的XDP基因修饰因子的作用，可能提供可靠的预测。
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