Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
Parkinsonism Relat Disord. 2011 Nov;17(9):655-61. doi: 10.1016/j.parkreldis.2011.04.001. Epub 2011 Apr 29.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. SCA10 represents a rare form of SCA, until now only described in Latin America, particularly in Mexico, Brazil, Argentina and Venezuela. In Mexico and Brazil SCA10 represents the second most common type of autosomal dominant cerebellar ataxia. The phenotype described in Mexico, is characterized by the association of cerebellar ataxia with epilepsy, while in Brazil the SCA10 phenotype is that of a pure cerebellar ataxia. As yet unidentified genotypic variables may account for this phenotypic difference.
脊髓小脑性共济失调 10 型（SCA10）是一种常染色体显性遗传性共济失调，由 ATXN10 基因 9 号内含子中 ATTCT 五核苷酸重复扩增引起，位于 22q13.3 染色体上。SCA10 是一种罕见的 SCA 形式，直到现在才在拉丁美洲，特别是在墨西哥、巴西、阿根廷和委内瑞拉被描述。在墨西哥和巴西，SCA10 是第二常见的常染色体显性小脑性共济失调类型。在墨西哥描述的表型特征是小脑共济失调伴癫痫，而在巴西，SCA10 表型则是单纯的小脑共济失调。尚未确定的基因型变量可能解释了这种表型差异。
