Advance in research on pathogenetic genes for amyotrophic lateral sclerosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 343-349, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928416
ABSTRACT
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which is associated with genetic and environmental factors, though the pathogenesis is still unclear and there is also a lack of effective treatment. With the rapid advance of genetic testing techniques, over 30 genes have been associated with the disease. Some ALS patients harboring genetic variants may present unique clinical characteristics and particular mode of inheritance, but the correlation between genotype and phenotype is still not very clear. Studies have shown that research on the pathogenic genes of ALS is important for the diagnosis and selection of potential drug targets. Here the pathogenic genes of ALS, in particular the newly discovered genes, and their underlying mechanisms are reviewed. The necessity of genetic testing for ALS patients is also stressed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Testes Genéticos
/
Doenças Neurodegenerativas
/
Genótipo
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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