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亨廷顿病的诊治进展

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亨廷顿病(huntington's disease,HD)是一种严重致残的常染色体显性遗传的神经退行性疾病,临床上主要以逐渐进展的舞蹈样动作、认知障碍和精神行为异常三联征为特征.该病致病原因明确,由人类4号染色体IT基因1号外显子CAG三核苷酸重复扩增引起.目前尚缺乏改变HD病程的治疗干预措施,主要以对症综合治疗,改善患者的症状和生活质量.该综述对目前HD规范化诊治进行了概述,并总结近年来基于HD病理机制的分子疗法研究进展.
Progress in diagnosis and treatment of Huntington's disease
Huntington's disease(HD)is a severely disabling autosomal dominant neurodegenerative disease.Clinically,it is characterized by a triad of progressively worsening chorea,cognitive decline,and psychiatric disturbances.The pathogenesis of HD is well-established.The disease is caused by CAG trinucleotide repeat expansion in exon 1 of the huntingtin(HTT)gene on human chro-mosome 4.Currently,there are no disease-modifying treatments available for HD,The HD patients mainly receive the symptomatic and comprehensive treatment to improve their symptoms and quality of life.This article provides a comprehensive overview of the current standardized approaches to diagnosis and management of HD.It also summarizes the research progress of molecular therapy based on the pathological mechanism of HD in recent years.

Huntington's diseasePreclinical and clinical researchDiagnostic and therapeutic progress

程扬帆、张斯睿、商慧芳

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四川大学华西医院神经内科,四川 成都 610041

亨廷顿病 临床前和临床研究 诊治进展

四川省科技重大专项

2022ZDZX0023

2024

实用医院临床杂志
四川省医学科学院 四川省人民医院

实用医院临床杂志

CSTPCD
影响因子:1.179
ISSN:1672-6170
年,卷(期):2024.21(5)