Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

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• 作者：S. Zeng ; J. Zeng ; M. He ; X. Zeng ; Y. Zhou ; Z. Liu ; K. Xia ; Q. Pan ; H. Jiang ; L. Shen ; X. Yan ; B. Tang and J. Wang
• 刊名：Clinical Genetics
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：90
• 期：2
• 页码：141-148
• 全文大小：755K
• ISSN：1399-0004

文摘

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.