3型脊髓小脑共济失调：一组巴西患者的亚表型
Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.
作者信息
Moro Adriana, Munhoz Renato P, Arruda Walter O, Raskin Salmo, Moscovich Mariana, Teive Hélio A G
机构信息
Setor de Neurologia, Departamento de Medicina Interna, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
出版信息
Arq Neuropsiquiatr. 2014 Sep;72(9):659-62. doi: 10.1590/0004-282x20140129.
UNLABELLED
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems.
METHOD
The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes.
RESULTS
SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%.
CONCLUSION
Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies.
未标注
3型脊髓小脑共济失调（SCA3）累及小脑、锥体、锥体外系、运动神经元和动眼神经等系统，具有很强的表型异质性，这使我们根据主要受累的运动系统将该疾病分为不同的临床亚型。
方法
该系列研究纳入了1989年至2013年间研究的68个家系中的167例SCA3患者。这些患者被分为七种不同的亚表型。
结果
SCA3病例根据主要临床特征聚类。三种最常见的类型是亚表型2，以共济失调和锥体症状为特征，占67.5%；亚表型3，伴有共济失调和周围体征，占13.3%；亚表型6，为纯小脑综合征，占7.2%。
结论
我们的研究首次将SCA3系统地分为七种亚表型。这种分类对于在未来研究中确定更具体、直接的表型/基因型相关性可能特别有用。
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