Research progress of ADPRHL2 gene related stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
10.3760/cma.j.cn101070-20211226-01503
- VernacularTitle:ADPRHL2基因相关应激诱发的儿童神经退行性病变伴癫痫-共济失调综合征研究进展
- Author:
Shuang YAN
1
;
Jing WANG
;
Jiehui MA
;
Dan SUN
Author Information
1. 江汉大学医学院，武汉 430056
- Keywords:
ADPRHL2 gene;
Pathogenic mechanism;
Clinical feature
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(2):151-154
- CountryChina
- Language:Chinese
-
Abstract:
Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures caused by ADPRHL2 gene mutation is a recently diagnosed hereditary neurodegenerative disease, featured by a small number of reported cases, early age of onset, and high mortality.Therefore, to attract the attention of clinicians, the research progress of ADPRHL2 gene, its protein structure and function, as well as the hereditary mode, pathogenic mechanism, clinical features, and treatment prognosis of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures were reviewed in this paper.
