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Clin Genet. 2016 Oct;90(4):305-14. doi: 10.1111/cge.12808. Epub 2016 Jun 30.

Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

Sun YM1, Lu C2,3, Wu ZY4,5.

Author information

1
Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
2
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
3
Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
4
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China. zhiyingwu@zju.edu.cn.
5
Joint Institute for Genetics and Genome Medicine between Zhejiang University and University of Toronto, Zhejiang University, Hangzhou, China. zhiyingwu@zju.edu.cn.

Abstract

Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1-40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.

KEYWORDS:

autosomal dominant cerebellar ataxias; genotype; phenotype; spinocerebellar ataxia

PMID:
27220866
DOI:
10.1111/cge.12808
[Indexed for MEDLINE]

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