亨廷顿病的早期诊治临床研究进展

Advances in clinical research on early diagnosis and treatment of Huntington disease

摘要:

亨廷顿病(Huntington disease，HD)是一种常染色体显性遗传的神经退行性疾病，由Htt基因内CAG三核苷酸重复序列异常扩增所致。典型症状包括舞蹈样症状、认知和精神障碍。现如今已经进行了许多卓有成效的研究，新的诊断和治疗策略正在研究中。相信在未来该疾病也将会被越来越多的临床医师所熟识及有效诊治。

Abstract:

Huntington disease (HD) is a neurodegenerative disease with autosomal dominant inheritance and is caused by abnormal amplification of CAG trinucleotide repeats in the Htt gene. Classical symptoms include dance-like symptoms and cognitive and mental disorders. Many fruitful studies have been conducted in recent years, and new diagnostic and therapeutic strategies are being developed. It is believed that in the future, more and more clinicians will become familiar with this disease and patients with this disease will obtain effective diagnosis and treatment.