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亨廷顿病的治疗进展。

Huntington's Disease-Update on Treatments.

机构信息

Department of Neurology, University of Michigan, 1324 Taubman Center, SPC 5322, 1500 E. Medical Center Drive, Ann Arbor, 48109-5322, USA.

出版信息

Curr Neurol Neurosci Rep. 2017 Apr;17(4):33. doi: 10.1007/s11910-017-0739-9.

Abstract

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies. Unfortunately, many other symptoms do not respond to current treatments. Furthermore, high-quality evidence for treatment of HD in general remains limited. To date, there has been minimal success with identifying a disease-modifying therapy based upon molecular models. However, one of the emerging gene silencing techniques may provide a breakthrough in treating this devastating disease.

摘要

亨廷顿病(HD)是一种常染色体显性遗传的神经退行性疾病,其特征是进行性运动、行为和认知能力下降,最终导致死亡。尽管早在 20 多年前就发现了潜在的基因突变,但治疗仍集中在症状管理上。舞蹈症是最明显的症状,对减少多巴胺能神经传递的药物有反应。抑郁和焦虑等精神症状也可能对症状治疗有很好的反应。不幸的是,目前的治疗方法对许多其他症状并没有效果。此外,一般来说,治疗 HD 的高质量证据仍然有限。迄今为止,基于分子模型确定一种疾病修饰疗法的尝试收效甚微。然而,新兴的基因沉默技术之一可能为治疗这种毁灭性疾病提供突破。

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