Advance in research on spinocerebellar ataxia 17 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 44-47, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-254512
ABSTRACT
Hereditary spinocerebellar ataxia type 17 (SCA17) is an autosomal dominantly inherited progressive degenerative disease of the nervous system. Also known as Huntington's disease-like 4(HDL4), SCA17 mainly features ataxia, muscle dystonia and psychiatric symptoms. The gene predisposing to SCA17 has been mapped and cloned, which encodes a TATA-binding protein (TBP). A CAG repeat expansion in the coding region of TBP gene can cause polyglutamine chain extension in the protein. This paper reviews recent progress in the research on SCA17 in regard to its clinical, etiology, pathology and pathogenesis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Huntington Disease
/
Trinucleotide Repeat Expansion
/
Spinocerebellar Ataxias
/
TATA-Box Binding Protein
/
Genetics
Limits:
Animals
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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