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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oligonucleotídeos
/
Patologia
/
Cromossomos Humanos Par 20
/
Proteínas Nucleares
/
Sequência de Bases
/
Mapeamento Cromossômico
/
Predisposição Genética para Doença
/
Ataxias Espinocerebelares
/
Pesquisa Biomédica
/
Expansão das Repetições de DNA
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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