Nascimento Fábio A, Rodrigues Vinícius O R, Pelloso Fernando C, Camargo Carlos Henrique Ferreira, Moro Adriana, Raskin Salmo, Ashizawa Tetsuo, Teive Hélio Afonso Ghizoni
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Department of Neurology, Baylor College of Medicine, Houston, USA.
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil.
Clin Neurol Neurosurg. 2019 Sep;184:105427. doi: 10.1016/j.clineuro.2019.105427. Epub 2019 Jul 10.
To describe and correlate the genotype and phenotype of patients diagnosed with SCAs in southern of Brazil.
Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined.
The most frequent type was SCA3 (45.7%), followed by SCA10 (18.3%), SCA2 (6.5%), SCA1 (4.3%), SCA7 (1.8%), and SCA6 (0.65%). The Undetermined group represented 22.8% of all patients. We observed a high frequency of SCA10 when compared to data from other studies, which can be explained by a founder effect in our region. Statistically significant differences were found for several symptoms when comparing SCA groups, especially lid retraction (p < 0.001), ophthalmoplegia (p < 0.001), visual loss (p < 0.001) and slow saccades (p < 0.001) which may help clinically differentiate SCAs and allow neurologists to request the right confirmatory genetic test and define prognosis. Also, the prevalence of epilepsy in SCA10 patients was lower than usual (4.8%), suggesting a genetic variation of the disease.
Although SCA3 remains the most common, we observed a high frequency of SCA10 in our region. In addition, some symptoms and signs might help differentiate the SCAs.
描述并关联巴西南部被诊断为脊髓小脑共济失调（SCAs）患者的基因型和表型。
数据收集于我们共济失调门诊的记录。我们纳入了来自213个家庭的460名患者，他们被分为四组：SCA3、SCA10、其他脊髓小脑共济失调（Other SCAs）和未确定组。
最常见的类型是SCA3（45.7%），其次是SCA10（18.3%）、SCA2（6.5%）、SCA1（4.3%）、SCA7（1.8%）和SCA6（0.65%）。未确定组占所有患者的22.8%。与其他研究的数据相比，我们观察到SCA10的频率较高，这可以用我们地区的奠基者效应来解释。在比较各SCA组时，发现几种症状存在统计学显著差异，尤其是眼睑退缩（p < 0.001）、眼肌麻痹（p < 0.001）、视力丧失（p < 0.001）和眼球扫视缓慢（p < 0.001），这可能有助于临床鉴别脊髓小脑共济失调，并使神经科医生能够要求进行正确的确诊基因检测并确定预后。此外，SCA10患者中癫痫的患病率低于通常情况（4.8%），提示该疾病存在基因变异。
尽管SCA3仍然是最常见的，但我们观察到我们地区SCA10的频率较高。此外，一些症状和体征可能有助于鉴别脊髓小脑共济失调。
