国际神经病学神经外科学杂志2025，Vol.52Issue(6)：82-86,5.DOI:10.16636/j.cnki.jinn.1673-2642.2025.06.012
遗传性痉挛性截瘫11型发病机制研究进展
Research advances in the pathogenesis of hereditary spastic paraplegia type 11
摘要
Abstract
Hereditary spastic paraplegia type 11(SPG11)is the most common subtype of autosomal recessive hereditary spastic paraplegia(HSP)and is caused by mutations in the SPG11 gene,with the clinical features of progressive spastic paraparesis,cognitive decline,dysarthria,peripheral neuropathy,muscle atrophy,sphincter dysfunction,and ataxia.Typical neuroimaging features include thinning of the corpus callosum and periventricular white matter abnormalities.Molecular genetic research in recent years has shown that the pathogenesis of SPG11 involves at least seven interrelated mechanisms,i.e.,neuroimmune and inflammatory responses,impaired cholesterol transport,abnormal mitochondrial function and dynamics,defects in axonal transport,disruption of the autophagy-lysosome pathway,neurodevelopmental disorders,and metabolic imbalance in the hypothalamus.These mechanisms not only clarify the pathogenic basis of SPG11,but also provide important theoretical support for the development of targeted therapeutic strategies for SPG11-associated HSP.This article reviews these mechanisms and explore future therapeutic directions.关键词
遗传性痉挛性截瘫/SPG11基因/发病机制Key words
hereditary spastic paraplegia/SPG11 gene/pathogenesis分类
医药卫生引用本文复制引用
徐浩然,刘小民..遗传性痉挛性截瘫11型发病机制研究进展[J].国际神经病学神经外科学杂志,2025,52(6):82-86,5.基金项目
山东省自然科学基金项目(ZR2021MH059). （ZR2021MH059）
