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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Genetic Testing
/
Neurodegenerative Diseases
/
Genotype
/
Amyotrophic Lateral Sclerosis
Type of study:
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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