Huntington’s disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis and neuronal function. Consequences of mutant huntington (mhtt) gene transcription are not well known. Variability of age of onset is an important factor of Huntington’s disease separating adult and juvenile types. The factors which are taken into account are—genetic modifiers, maternal protection i.e excessive paternal transmission, superior ageing genes and environmental threshold. A major focus has been given to the molecular pathogenesis which includes—motor disturbance, cognitive disturbance and neuropsychiatric disturbance. The diagnosis part has also been taken care of. This includes genetic testing and both primary and secondary symptoms. The present review also focuses on the genetics and pathology of Huntington’s disease.

亨廷顿病是一种神经退行性常染色体疾病，是由于亨廷顿基因中多态性 CAG 重复序列的扩增所致。翻译起始因子 4E-BP 的磷酸化导致翻译控制的改变，导致不需要的蛋白质合成和神经元功能。突变亨廷顿 (mhtt) 基因转录的后果尚不清楚。发病年龄的可变性是亨廷顿病区分成人和青少年类型的一个重要因素。考虑的因素是——基因修饰、母体保护，即过度的父系传播、优越的衰老基因和环境阈值。主要关注分子发病机制，包括运动障碍、认知障碍和神经精神障碍。诊断部分也得到了照顾。这包括基因检测以及主要和次要症状。本综述还侧重于亨廷顿病的遗传学和病理学。