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再刊:一种实用的迟发性小脑共济失调方法:将无秩序的疾病置于有序之中。

Republished: A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.

机构信息

Department of Neurology, Radboud University Nijmegen Medical Centre, Reinier Postlaan 4, Nijmegen, The Netherlands.

出版信息

Postgrad Med J. 2012 Jul;88(1041):407-17. doi: 10.1136/postgradmedj-2011-000108rep.

DOI:10.1136/postgradmedj-2011-000108rep
PMID:22730484
Abstract

The clinical management of cerebellar ataxia is challenging, mainly because ataxia is a symptom of many neurological diseases. Many types of ataxia disorders are genetic and some are extremely rare. Here, the authors suggest a diagnostic approach to ataxia developed around a case of sporadic, late-onset, slowly progressive ataxia. Clinical information such as age of onset, rate of progression, family history and certain non-cerebellar features can narrow the differential diagnosis. Brain MRI is almost obligatory and may reveal valuable diagnostic clues. Having ruled out structural lesions, the two other most common diagnoses are inflammatory and degenerative (including genetic) disorders. Although only a minority of underlying diseases are treatable, there are still many options for supportive care.

摘要

小脑性共济失调的临床管理具有挑战性,主要是因为共济失调是许多神经疾病的症状。许多类型的共济失调障碍是遗传性的,有些则极为罕见。在这里,作者围绕一例散发的、迟发性、缓慢进展性共济失调病例提出了一种诊断方法。临床信息,如发病年龄、进展速度、家族史和某些非小脑特征,可以缩小鉴别诊断范围。脑 MRI 几乎是必需的,并且可能会揭示有价值的诊断线索。在排除结构性病变后,另外两个最常见的诊断是炎症性和退行性(包括遗传性)疾病。虽然只有少数基础疾病是可治疗的,但仍有许多支持性护理的选择。

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