一组巴西患者脊髓小脑共济失调中的运动障碍
Movement disorders in spinocerebellar ataxias in a cohort of Brazilian patients.
作者信息
Moro Adriana, Munhoz Renato P, Moscovich Mariana, Arruda Walter O, Raskin Salmo, Teive Hélio A G
机构信息
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba PR, Brazil.
出版信息
Eur Neurol. 2014;72(5-6):360-2. doi: 10.1159/000365285. Epub 2014 Oct 14.
BACKGROUND
Movement disorders (MDs) are well recognized in all subtypes of spinocerebellar ataxias (SCA), but phenomenology and frequency vary widely.
METHODS
Three hundred seventy-eight patients, from 169 Brazilian families, with SCAs were assessed with neurological examination and molecular genetic testing.
RESULTS
Dystonia was the most common movement disorder, found in 5.5% of all patients, particularly in SCA3. We observed Parkinsonian features in 6.6% of SCA3 patients, and myoclonus in two patients of our cohort.
CONCLUSIONS
Our study demonstrated that MDs are major extracerebellar manifestations of SCA. The observed phenotypes in addition to ataxia may provide significant clues for a particular SCA genotype.
背景
运动障碍（MDs）在所有脊髓小脑共济失调（SCA）亚型中均得到充分认识，但现象学和频率差异很大。
方法
对来自169个巴西家庭的378例SCA患者进行了神经学检查和分子遗传学检测。
结果
肌张力障碍是最常见的运动障碍，在所有患者中占5.5%，尤其在SCA3中。我们在6.6%的SCA3患者中观察到帕金森样特征，在我们队列中的两名患者中观察到肌阵挛。
结论
我们的研究表明，MDs是SCA主要的小脑外表现。除共济失调外观察到的表型可能为特定的SCA基因型提供重要线索。
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