Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 650-656, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879908
ABSTRACT
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ganglios Basales
/
Enfermedades de los Ganglios Basales
/
Encéfalo
/
Trastornos del Metabolismo del Hierro
/
Hierro
Tipo de estudio:
Estudio de etiología
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Artículo
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