Saffie Awad Paula, Vial Undurraga Felipe, Chaná-Cuevas Pedro
Universidad de los Andes, Santiago, Chile.
Clínica Alemana, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.
Rev Med Chil. 2018 Jun;146(6):702-707. doi: 10.4067/s0034-98872018000600702.
Ataxia can be classified as genetic, sporadic or acquired.
To report the clinical features of a group of patients with ataxia.
Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review.
Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed.
Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype.
Considering the heterogeneity of patients with ataxia, we propose a method to approach them.
共济失调可分为遗传性、散发性或获得性。
报告一组共济失调患者的临床特征。
回顾在运动障碍专科中心就诊患者的病历。选择那些诊断为“共济失调”或“共济失调综合征”的病历进行回顾。
在4282份被调查的病历中，有95份诊断为共济失调。排除重复或不完整的病历后，对63份进行了回顾。
共济失调分别在27例、22例和14例患者中为散发性、遗传性和获得性。遗传性、获得性和散发性共济失调的平均发病年龄分别为24岁、46岁和53岁。所有常染色体显性共济失调均为3型脊髓小脑共济失调（SCA）。弗里德里希共济失调是最常见的隐性形式。大多数散发性共济失调形式为以小脑性共济失调为主的多系统萎缩（MSA-C）亚型。
考虑到共济失调患者的异质性，我们提出了一种处理他们的方法。
