Recent advances in pathogenesis and therapeutic targets of spinocerebellar ataxia
10.3760/cma.j.cn115354-20231222-00315
- VernacularTitle:脊髓小脑性共济失调的发病机制及治疗靶点研究进展
- Author:
Kang WANG
1
;
Yan ZHANG
;
Hui ZHAO
;
Long SHAO
;
Lingling FENG
;
Tong ZHAO
Author Information
1. 山东第一医科大学第二附属医院神经内科，泰安 271000
- Keywords:
Spinocerebellar ataxia;
Autophagy;
Gene silencing;
Neuroinflammation;
Purkinje cell
- From:
Chinese Journal of Neuromedicine
2024;23(5):526-533
- CountryChina
- Language:Chinese
-
Abstract:
Spinocerebellar ataxia (SCA) is a group of progressively aggravated neurodegenerative disease with autosomal dominant inheritance. Cerebellar ataxia is the core symptom, which may be accompanied by pyramidal tract signs, extrapyramidal signs, cognitive dysfunction and peripheral neuropathy. Although SCA can be accurately diagnosed by genetic testing, treatment is still difficult. We review the pathogenesis and therapeutic targets of SCA in recent years, in terms of genetic or gene regulation abnormalities, disruption of protein quality control (PQC) network, disruption of energy homeostasis, stability maintenance of PQC system, maintenance of cerebellar Purkinje cell function, and regulation of neuroinflammation, so as to promote the transformation of preclinical research into human therapy.
