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《运动障碍治疗前沿:从证据到治疗与应用:满足共济失调患者管理需求》

CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias.

作者信息

Perlman Susan L

机构信息

Department of Neurology David Geffen School of Medicine at UCLA Health Sciences 300 UCLA Medical Plaza, Suite B200 Los Angeles, CA 90095, United States.

出版信息

Clin Park Relat Disord. 2024 May 10;10:100255. doi: 10.1016/j.prdoa.2024.100255. eCollection 2024.

DOI:10.1016/j.prdoa.2024.100255
PMID:38798918
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11126860/
Abstract

The genetic ataxias have no cures and no proven ways to delay progression (no disease-modifying therapies). The acquired ataxias may have treatments that address the underlying cause and may slow or stop progression, but will not reverse damage already sustained. The idiopathic ataxias (of unknown genetic or acquired cause) also have no proven disease-modifying therapies. However, for all patients with ataxia of any cause, there is always something that can be done to improve quality of life-treat associated symptoms, provide information and resources, counsel patient and family, help with insurance and disability concerns, be available to listen and answer the many questions they will have.

摘要

遗传性共济失调无法治愈,也没有经证实的延缓疾病进展的方法(没有疾病修饰疗法)。获得性共济失调可能有针对潜在病因的治疗方法,可能会减缓或阻止疾病进展,但无法逆转已造成的损害。特发性共济失调(病因不明的遗传性或获得性)也没有经证实的疾病修饰疗法。然而,对于所有因任何原因导致共济失调的患者,总有一些事情可以做来改善生活质量——治疗相关症状、提供信息和资源、为患者及其家人提供咨询、帮助解决保险和残疾问题、随时倾听并回答他们会提出的众多问题。

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Clin Park Relat Disord. 2024 Jul 18;12:100263. doi: 10.1016/j.prdoa.2024.100263. eCollection 2025.

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Ann Clin Transl Neurol. 2024 Jan;11(1):4-16. doi: 10.1002/acn3.51897. Epub 2023 Sep 10.
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.ClinPrior:一种基于网络优先级排序的诊断和新基因发现算法。
Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2.
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Assessment and tailored physical rehabilitation approaches in persons with cerebellar impairments targeting mobility and walking according to the International Classification of Functioning: a systematic review of case-reports and case-series.根据国际功能、残疾和健康分类,对有小脑损伤的人进行评估和针对性的物理康复方法,以提高其移动性和行走能力:病例报告和病例系列的系统评价。
Disabil Rehabil. 2024 Aug;46(16):3490-3512. doi: 10.1080/09638288.2023.2248886. Epub 2023 Aug 28.
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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.非扩张型脊髓小脑共济失调的表型极端异质性。
Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9.
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Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.《884 例隐性和早发性共济失调患者的共济失调评估和评定量表的反应性及自然病史》。
Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12.
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Cerebellum. 2024 Apr;23(2):391-400. doi: 10.1007/s12311-023-01537-1. Epub 2023 Mar 4.
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Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12897. doi: 10.1111/nan.12897.
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