Advance in research on spinocerebellar ataxia 2 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 284-287, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-688249
ABSTRACT
Spinocerebellar ataxia type 2 (SCA2) is a rare autosomal dominant progressive degenerative disease of the nervous system, which is characterized by a progressive cerebellar syndrome associated with saccadic eye scan, peripheral neuropathy, cognitive disorders, and other multisystem features. The gene predisposing to SCA2 has been mapped, which encodes the ataxin 2 protein. A CAG repeat expansion in the coding region of ATXN2 gene can cause extension of polyglutamine chain in the protein. This paper reviews recent progress made in the research on SCA2 in regard to its clinical features, pathology, etiology, pathogenesis and treatment.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Terapéutica
/
Ataxias Espinocerebelosas
/
Ataxina-2
/
Genética
Límite:
Animales
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
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