1.
Chinese Journal of Applied Clinical Pediatrics
;
(24): 151-154, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-990005
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.