Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 673-676, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-232234
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cerebellar Ataxia
/
Classification
/
Genes, Recessive
/
Genetics
/
Metabolism
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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