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RAB39B 连锁帕金森病中左旋多巴诱导的早期运动并发症

Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.

作者信息

Mackels Laurane, Aktan David, Depierreux Frédérique

机构信息

Neurology Department, Regional Hospital of Liege, Liege, Belgium.

Neurology Department, University Hospital of Liege, Liege, Belgium.

出版信息

Tremor Other Hyperkinet Mov (N Y). 2024 Nov 25;14:58. doi: 10.5334/tohm.946. eCollection 2024.

DOI:10.5334/tohm.946
PMID:39619277
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11606391/
Abstract

BACKGROUND

While levodopa may benefit some patients with monogenic Parkinson's Disease and parkinsonism, others may exhibit aberrant responses earlier after exposure. Reporting treatment responses in rare genetic parkinsonism will help tailor therapeutic approaches to specific patients subpopulations.

CASE REPORT

We report the therapeutic response in a patient with X-linked parkinsonism, who exhibited motor and non-motor complications within a few months of Levodopa.

DISCUSSION

Severe and debilitating Levodopa-induced complications can occur very early in the treatment course of X-linked parkinsonism, highlighting the need for an individualized therapeutic approach and follow-up in rare parkinsonian syndromes.

摘要

背景

虽然左旋多巴可能使一些单基因帕金森病和帕金森综合征患者受益,但其他患者在接触后可能更早出现异常反应。报告罕见遗传性帕金森综合征的治疗反应将有助于为特定患者亚群量身定制治疗方法。

病例报告

我们报告了一名X连锁帕金森综合征患者的治疗反应,该患者在使用左旋多巴几个月内出现了运动和非运动并发症。

讨论

严重且使人衰弱的左旋多巴诱导的并发症可能在X连锁帕金森综合征的治疗过程中很早就出现,这突出了在罕见帕金森综合征中采用个体化治疗方法和随访的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/663f/11606391/487b126f5cbb/tohm-14-1-946-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/663f/11606391/487b126f5cbb/tohm-14-1-946-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/663f/11606391/487b126f5cbb/tohm-14-1-946-g1.jpg

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本文引用的文献

1
Multimodal imaging of a patient with RAB39B mutation.患者 RAB39B 突变的多模态影像学表现。
Neuroradiology. 2022 Mar;64(3):621-625. doi: 10.1007/s00234-021-02882-w. Epub 2022 Jan 27.
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Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease.G2019S型亮氨酸-rich重复激酶2帕金森病患者深部脑刺激的临床特征与预后
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Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.
单基因帕金森病的基因型-表型相关性:临床与分子研究结果综述
Front Neurol. 2021 Sep 22;12:648588. doi: 10.3389/fneur.2021.648588. eCollection 2021.
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A Practical Approach to Early-Onset Parkinsonism.早发性帕金森病的实用处理方法。
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Levodopa-induced dyskinesia in Parkinson disease: A population-based cohort study.左旋多巴诱导的帕金森病运动障碍:基于人群的队列研究。
Neurology. 2018 Dec 11;91(24):e2238-e2243. doi: 10.1212/WNL.0000000000006643. Epub 2018 Nov 7.
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X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.X 连锁帕金森病伴智力障碍,由 RAB39B 基因中的新型突变和体细胞核型嵌合体引起。
Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26.
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