Research advances on polyglycine diseases
10.3760/cma.j.cn113694-20220220-00119
- VernacularTitle:多聚甘氨酸疾病研究进展
- Author:
Shaoping ZHONG
1
;
Yangye LIAN
;
Jing DING
;
Xin WANG
Author Information
1. 复旦大学附属中山医院神经内科，上海200032
- Keywords:
Glycine;
Trinucleotide repeat expansion;
Ataxia;
Intranuclear inclusion bodies
- From:
Chinese Journal of Neurology
2022;55(10):1191-1199
- CountryChina
- Language:Chinese
-
Abstract:
Nucleotide repeat expansion is one of the common causes for neurodegenerative disorders. Polyglycine diseases are a newly defined neuro- and muscle- degenerative disease spectrum characterized by CGG trinucleotide repeat expansions, generation and aggregation of aberrant polyglycine protein, and formation of intranuclear inclusions. To date, the aggregation of pathogenic polyglycine protein has been proved in fragile X-associated tremor/ataxia syndrome and neuronal intranuclear inclusion disease. In recent years, the case load of these diseases grows rapidly with the increasing awareness and developing genetic testing technologies. This article aims to systematically review the recent progress in polyglycine diseases, and probe into their pathogenic mechanisms as well as clinical concerns.
