Rollnik J D
Institut für neurorehabilitative Forschung (InFo) der BDH-Klinik Hessisch Oldendorf gGmbH, Assoziiertes Institut der Medizinischen Hochschule Hannover (MHH), Greitstr. 18-28, 31840, Hessisch Oldendorf, Deutschland,
Nervenarzt. 2015 Jun;86(6):725-35. doi: 10.1007/s00115-015-4306-9.
Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by hyperkinetic movements, psychiatric (e.g. depression and psychosis) and cognitive symptoms (frontal lobe dementia). In Germany approximately 8000 patients suffer from HD.
The paper reviews the clinical course, epidemiology, genetics, differential diagnoses, pathophysiology, symptomatics and causal treatment options.
Publications on animal and human HD studies and trials and reviews available in Medline have been taken into account.
Only genetic testing allows diagnostic certainty. The CAG repeat length influences age of onset, disease course and life expectancy. The mechanism by which mutant huntingtin protein (mHTT) causes HD is complex and poorly understood but leads to cell death, in particular in striatal neurons. In clinical trials antioxidants (e.g. coenzyme Q10), selisistat, PBT2, cysteamine, N-methyl-D-aspartate (NMDA)-receptor antagonists and tyrosine kinase B receptor agonists have been studied in HD.
No disease-modifying therapy is currently available for HD; however, gene silencing, e.g. through RNA interference, is a promising technique which could lead to effective therapies in due course.
亨廷顿舞蹈症（HD）是一种进行性神经退行性疾病，其特征为运动亢进、精神症状（如抑郁和精神病）以及认知症状（额叶痴呆）。在德国，约有8000名患者患有HD。
本文综述了HD的临床病程、流行病学、遗传学、鉴别诊断、病理生理学、症状表现及病因治疗选择。
考虑了Medline上有关HD动物和人体研究、试验及综述的出版物。
只有基因检测能确定诊断。CAG重复序列长度会影响发病年龄、疾病进程和预期寿命。突变型亨廷顿蛋白（mHTT）导致HD的机制复杂且了解甚少，但会导致细胞死亡，尤其是纹状体神经元。在临床试验中，已对HD患者研究了抗氧化剂（如辅酶Q10）、司来吉兰、PBT2、半胱胺、N-甲基-D-天冬氨酸（NMDA）受体拮抗剂和酪氨酸激酶B受体激动剂。
目前尚无针对HD的疾病修饰疗法；然而，基因沉默，例如通过RNA干扰，是一种有前景的技术，有望在未来带来有效的治疗方法。
