Mrzljak Ladislav, Munoz-Sanjuan Ignacio
CHDI Management/CHDI Foundation Inc., Los Angeles, CA, USA.
Curr Top Behav Neurosci. 2015;22:161-201. doi: 10.1007/7854_2013_250.
Huntington's disease (HD) is a devastating autosomal dominant neurodegenerative disease, caused by expansion of the CAG repeat in the huntingtin (HTT) gene and characterized pathologically by the loss of pyramidal neurons in several cortical areas, of striatal medium spiny neurons, and of hypothalamic neurons. Clinically, a distinguishing feature of the disease is uncontrolled involuntary movements (chorea, dyskensias) accompanied by progressive cognitive, motor, and psychiatric impairment. This review focuses on the current state of therapeutic development for the treatment of HD, including the preclinical and clinical development of small molecules and molecular therapies.
亨廷顿舞蹈症(HD)是一种毁灭性的常染色体显性神经退行性疾病,由亨廷顿蛋白(HTT)基因中CAG重复序列的扩增引起,其病理特征是多个皮质区域的锥体神经元、纹状体中等棘状神经元和下丘脑神经元的丧失。临床上,该疾病的一个显著特征是不受控制的不自主运动(舞蹈症、运动障碍),伴有进行性认知、运动和精神障碍。本综述重点关注亨廷顿舞蹈症治疗的当前治疗进展,包括小分子和分子疗法的临床前和临床进展。