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Delayed-onset Friedreich's ataxia revisited.迟发性弗里德里希共济失调再探。
Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21.
2
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.全基因组测序在一个蒙古族大家庭中鉴定出一种与X连锁先天性小脑共济失调相关的新ABCB7基因突变。
Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5.
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Milestones in Friedreich ataxia: more than a century and still learning.弗里德赖希共济失调的里程碑:一个多世纪过去了,仍在探索。
Neurogenetics. 2015 Jul;16(3):151-60. doi: 10.1007/s10048-015-0439-z. Epub 2015 Feb 8.
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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.欧洲弗里德里希共济失调转化研究联合会(EFACTS)队列的生物学和临床特征:基线数据的横断面分析。
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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.外显子组测序在散发性或家族性小脑共济失调临床诊断中的应用
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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.EFNS/ENS 成人慢性共济失调诊断和管理共识。
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共济失调

Ataxia.

作者信息

Ashizawa Tetsuo, Xia Guangbin

出版信息

Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1208-26. doi: 10.1212/CON.0000000000000362.

DOI:10.1212/CON.0000000000000362
PMID:27495205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5567218/
Abstract

PURPOSE OF REVIEW

This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.

RECENT FINDINGS

Ataxia is a manifestation of a variety of disease processes, and an underlying etiology needs to be investigated. Pure ataxia is rare in acquired ataxia disorders, and associated symptoms and signs almost always exist to suggest an underlying cause. While the spectrum of hereditary degenerative ataxias is expanding, special attention should be addressed to those treatable and reversible etiologies, especially potentially life-threatening causes. This article summarizes the diseases that can present with ataxia, with special attention given to diagnostically useful features. While emerging genetic tests are becoming increasingly available for hereditary ataxia, they cannot replace conventional diagnostic procedures in most patients with ataxia. Special consideration should be focused on clinical features when selecting a cost-effective diagnostic test.

SUMMARY

Clinicians who evaluate patients with ataxia should be familiar with the disease spectrum that can present with ataxia. Following a detailed history and neurologic examination, proper diagnostic tests can be designed to confirm the clinical working diagnosis.

摘要

综述目的

本文介绍共济失调的背景和常见病因,并提供评估和管理共济失调患者的一般方法。

最新发现

共济失调是多种疾病过程的表现,需要对潜在病因进行调查。在获得性共济失调疾病中,单纯共济失调很少见,几乎总会存在相关症状和体征以提示潜在病因。虽然遗传性退行性共济失调的范围在不断扩大,但应特别关注那些可治疗和可逆的病因,尤其是可能危及生命的病因。本文总结了可表现为共济失调的疾病,并特别关注诊断有用的特征。虽然新兴的基因检测越来越多地用于遗传性共济失调,但在大多数共济失调患者中,它们不能取代传统的诊断程序。在选择具有成本效益的诊断测试时,应特别考虑临床特征。

总结

评估共济失调患者的临床医生应熟悉可表现为共济失调的疾病谱。在进行详细的病史和神经系统检查后,可以设计适当的诊断测试以确认临床工作诊断。