Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY Movement Disorders Clinical Practice Pub Date : 2024-12-01 Epub Date: 2024-10-14 DOI:10.1002/mdc3.14193

Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora, Christine Klein

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Abstract

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.

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棉兰老岛 X 连锁肌张力障碍-帕金森氏症队列中的临床人口学和遗传修饰相关性。

背景：X连锁肌张力障碍-帕金森病（XDP）是菲律宾特有的一种神经退行性运动障碍疾病，主要研究对象是来自帕奈岛和大马尼拉地区的患者。然而，居住在地理位置遥远地区的患者可能会表现出与早期报告中不同的临床或遗传特征：目的：研究棉兰老岛队列中的 XDP 临床特征与发病年龄（AAO）变异修饰因子之间的关系，并利用之前报道的 AAO 模型：我们调查了棉兰老岛南部 27 名 XDP 患者的临床和遗传特征。在所有患者中，我们对与 AAO 相关的 4 种多态性进行了基因分型：结果：在 27 名患者中，与 XDP 相关的六核苷酸重复序列与 AAO 显著相关，并解释了约 68% 的 AAO 变异。预测 AAO 与实际 AAO 之间没有统计学差异：AAO模型可以利用XDP遗传修饰因子对AAO变异性的影响提供可靠的预测。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)