脊髓小脑共济失调（SCAs）中的非运动症状。
Nonmotor symptoms in spinocerebellar ataxias (SCAs).
作者信息
Moro Adriana, Moscovich Mariana, Farah Marina, Camargo Carlos Henrique F, Teive Hélio A G, Munhoz Renato P
机构信息
1Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, 50 Teixeira Soares Street, Batel, Curitiba, PR CEP 80240-440 Brazil.
Department of Medicine, Pequeno Príncipe College, Curitiba, PR Brazil.
出版信息
Cerebellum Ataxias. 2019 Aug 27;6:12. doi: 10.1186/s40673-019-0106-5. eCollection 2019.
Abstract
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have often been poorly recognized and inadequately treated, much of the most recent developments in the investigation of these disorders has focused on the recognition and quantification of NMS, which will form the basis of improved clinical care for these complex cases. NMS have been only sparsely investigated in a limited number of spinocerebellar ataxias (SCAs), particularly SCA3, and have not been systematically reviewed for other forms of SCAs. The aim of the present study was to review the available literature on the presence of NMS among different types of SCAs.
摘要
非运动症状（NMS）在许多神经退行性疾病中越来越受到重视，其致残负担与运动症状相当，甚至超过运动症状。由于NMS常常未得到充分认识和治疗，这些疾病研究的许多最新进展都集中在NMS的识别和量化上，这将为这些复杂病例改善临床护理奠定基础。在少数几种脊髓小脑共济失调（SCA）中，尤其是SCA3，对NMS的研究较少，对于其他类型的SCA也尚未进行系统综述。本研究的目的是回顾不同类型SCA中NMS存在情况的现有文献。
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本文引用的文献
1
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J Clin Sleep Med. 2019 Jan 15;15(1):153-155. doi: 10.5664/jcsm.7592.
2
Non-motor features of Parkinson's disease in a nested case-control study of US men.美国男性巢式病例对照研究中的帕金森病非运动特征。
J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1288-1295. doi: 10.1136/jnnp-2018-318275. Epub 2018 Aug 3.
3
Olfactory Function in SCA10.SCA10 中的嗅觉功能。
Cerebellum. 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1.
4
Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation.马查多-约瑟夫病中的睡眠呼吸暂停：临床和多导睡眠图评估。
Sleep Med. 2018 Aug;48:23-26. doi: 10.1016/j.sleep.2018.04.002. Epub 2018 Apr 25.
5
Executive dysfunction in patients with spinocerebellar ataxia type 3.脊髓小脑性共济失调 3 型患者的执行功能障碍。
J Neurol. 2018 Jul;265(7):1563-1572. doi: 10.1007/s00415-018-8883-y. Epub 2018 May 3.
6
Sleep disorders in spinocerebellar ataxia type 10.脊髓小脑性共济失调 10 型中的睡眠障碍。
J Sleep Res. 2018 Oct;27(5):e12688. doi: 10.1111/jsr.12688. Epub 2018 Apr 6.
7
Autonomic function testing in spinocerebellar ataxia type 2.脊髓小脑共济失调 2 型的自主神经功能测试。
Clin Auton Res. 2018 Jun;28(3):341-346. doi: 10.1007/s10286-018-0504-4. Epub 2018 Feb 12.
8
Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.赞比亚家庭中7型脊髓小脑共济失调（SCA7）的临床与遗传学分析
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9
Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10.脊髓小脑性共济失调 10 型患者的非运动症状。
Cerebellum. 2017 Dec;16(5-6):938-944. doi: 10.1007/s12311-017-0869-2.
10
Polysomnography findings in spinocerebellar ataxia type 6.6型脊髓小脑共济失调的多导睡眠图检查结果
J Sleep Res. 2016 Dec;25(6):720-723. doi: 10.1111/jsr.12439. Epub 2016 Jul 5.
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