Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
Universidade Federal do Ceará, Faculdade de Medicina, Departamento de Clínica Médica, Fortaleza CE, Brazil.
Arq Neuropsiquiatr. 2024 Aug;82(8):1-8. doi: 10.1055/s-0044-1787800. Epub 2024 Jul 4.
Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs).
To report a descriptive analysis of the frequency of different forms of cerebellar ataxia evaluated over 17 years in the Ataxia Unit of Universidade Federal de São Paulo, Brazil.
Charts of patients who were being followed from January 2007 to December 2023 were reviewed. We used descriptive statistics to present our results as frequencies and percentages of the overall analysis. Diagnosed patients were classified according to the following 9 groups: sporadic ataxia, spinocerebellar ataxias (SCAs), other autosomal dominant cerebellar ataxias, autosomal recessive cerebellar ataxias (ARCAs), mitochondrial ataxias, congenital ataxias, X-linked ataxias, HSPs, and others.
There were 1,332 patients with ataxias or spastic paraplegias. Overall, 744 (55.85%) of all cases were successfully diagnosed: 101 sporadic ataxia, 326 SCAs, 20 of other autosomal dominant cerebellar ataxias, 186 ARCAs, 6 X-linked ataxias, 2 mitochondrial ataxias, 4 congenital ataxias, and 51 HSPs.
This study describes the frequency of cerebellar ataxias in a large group of patients followed for the past 17 years, of whom 55% obtained a definitive clinical or molecular diagnosis. Future demographic surveys in Brazil or Latin American remain necessary.
小脑共济失调包括散发性和遗传性病因。遗传性痉挛性截瘫（HSP）也可能以共济失调为首发表现。
报告巴西圣保罗联邦大学共济失调科 17 年来评估的不同类型小脑共济失调的频率的描述性分析。
对 2007 年 1 月至 2023 年 12 月期间就诊的患者病历进行回顾性分析。我们使用描述性统计来呈现总体分析的频率和百分比结果。诊断患者根据以下 9 组进行分类：散发性共济失调、脊髓小脑共济失调（SCA）、其他常染色体显性遗传性小脑共济失调、常染色体隐性遗传性小脑共济失调（ARCA）、线粒体共济失调、先天性共济失调、X 连锁共济失调、HSP 和其他。
共纳入 1332 例有共济失调或痉挛性截瘫的患者。总体而言，1332 例患者中，744 例（55.85%）成功诊断：101 例散发性共济失调、326 例 SCA、20 例其他常染色体显性遗传性小脑共济失调、186 例 ARCA、6 例 X 连锁共济失调、2 例线粒体共济失调、4 例先天性共济失调和 51 例 HSP。
本研究描述了过去 17 年来在一大组患者中小脑共济失调的频率，其中 55%的患者获得了明确的临床或分子诊断。未来仍有必要在巴西或拉丁美洲开展人口学调查。
