Recent advances in clinical and genetic research of spinocerebellar ataxia type 36 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 886-889, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-287966
ABSTRACT
Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized by "CTA/CTG", "ATTCT", "TGGAA" expansion in non-coding region of the causative gene. Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped. Recently, the causative mutation for SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified in Japanese and Spanish pedigrees in succession. Compared with other subtypes of SCAs, there are certain distinctive characteristics for SCA36. The clinical and genetic features of SCA36 are reviewed in this paper.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oligonucleotides
/
Pathology
/
Chromosomes, Human, Pair 20
/
Nuclear Proteins
/
Base Sequence
/
Chromosome Mapping
/
Genetic Predisposition to Disease
/
Spinocerebellar Ataxias
/
Biomedical Research
/
DNA Repeat Expansion
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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