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  • Title: [Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia].
    Author: Guan WJ, Wang JL, Tang BS.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):673-6. PubMed ID: 23225047.
    Abstract:
    Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.
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