Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China
Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China
复制标题
DOI：
10.1111/cge.12706
复制
发表时间：
2016-01
影响因子：
3.5
通讯作者：
Sheng Zeng;Junsheng Zeng;M. He;Xianfeng Zeng;Yao Zhou;Zhen Liu;Kun Xia;Q. Pan;Hong Jiang;Lu Shen;Xinxiang Yan;B. Tang;Junling Wang
中科院分区：
文献类型：
--
作者：
Sheng Zeng;Junsheng Zeng;M. He;Xianfeng Zeng;Yao Zhou;Zhen Liu;Kun Xia;Q. Pan;Hong Jiang;Lu Shen;Xinxiang Yan;B. Tang;Junling Wang
脊髓小脑性共济失调36型（SCA 36）是最近在日本和西班牙家系中报道的一个新的SCA亚型。为了评估SCA 36在中国大陆患者中的频率和临床特征，我们结合重复引物聚合酶链反应方法和Southern印迹分析，检测了364名SCA先证者、126名遗传性痉挛性截瘫先证者和99名肌萎缩侧索硬化（ALS）先证者的NOP 56的GGCCTG六核苷酸重复序列。在SCA 36例患者中进行了系统性和有针对性的临床评价和研究。因此，SCA队列中8个常染色体显性遗传脊髓小脑性共济失调（ADCA）家系（共13例患者）和1例散发性SCA（S-SCA）患者被确定为SCA 36，约占中国大陆ADCA组病例的1.60%和S-SCA组病例的0.32%。这些特征包括中国大陆患者的迟发性和缓慢进展，伴有听觉障碍和“可能的”ALS表型。
Spinocerebellar ataxia type 36 (SCA36) is a new SCA subtype recently reported in Japanese and Spanish pedigrees. To assess the frequency and clinical characteristics of SCA36 in patients from Mainland China, we combined the repeat‐primed polymerase chain reaction method and Southern blot analysis to detect the GGCCTG hexanucleotide repeats of NOP56 in 364 probands with SCA, 126 probands with hereditary spastic paraplegia and 99 probands with amyotrophic lateral sclerosis (ALS). Systematic and targeted clinical evaluations and investigations were conducted in the SCA36 patients. As a result, eight autosomal dominant spinocerebellar ataxia (ADCA) pedigrees (a total of 13 patients) and one sporadic SCA (S‐SCA) patient were identified as SCA36 in the SCA cohort, accounting for approximately 1.60% of the cases in the ADCA group and 0.32% of those in the S‐SCA group in Mainland China. The characteristics include late onset and slow progression accompanied by acoustic impairments and ‘possible’ ALS phenotype in patients from Mainland China.