遗传性痉挛性截瘫伴胼胝体发育不良的遗传学研究进展

Research advances in genetics of hereditary spastic paraplegia with thin corpus callosum

摘要:

遗传性痉挛性截瘫伴胼胝体发育不良（HSP-TCC）是复杂型HSP的一种，临床特点为进行性双下肢痉挛伴胼胝体发育不良，多儿童及青少年发病，常伴智能障碍。HSP-TCC具有高度的遗传异质性，病理提示皮质脊髓束变性。目前已发现至少19个疾病基因，主要包括：SPG1、SPG11、SPG15、SPG21、SPG35、SPG44、PG47、SPG54、SPG56等。该文就近年来有关该病的遗传学研究进展进行了综述，以期有助于该病的鉴别与诊断。

Abstract:

Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of complex HSP forms, and clinically characterized by progressive spasticity of the lower limbs and thin corpus callosum. The onset of HSP-TCC occurs mainly in children and adolescents, and is frequently accompanied by intellectual disability. The pathological examination of HSP-TCC suggests degeneration of the corticospinal tract. Due to its vast genetic heterogeneity, at least 19 disease-related genes have been found so far, including SPG1, SPG11, SPG15, SPG21, SPG35, SPG44, PG47, SPG54, and SPG56. Here, we review the recent research progress in the genetics of this disease, aiming to provide a reference for the diagnosis and differential diagnosis of HSP-TCC.