Cardoso Francisco
Neurology Service, Department of Internal Medicine, The Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Neurodegener Dis Manag. 2014;4(1):67-72. doi: 10.2217/nmt.13.78.
Huntington's disease (HD), an autosomal-dominant illness caused by an expansion of the CAG repeats on the short arm of chromosome 4, is clinically characterized by a combination of movement disorders, cognitive decline and behavioral changes. HD accounts for 90-99% of patients who present with this clinical picture. The remaining patients that are negative for the HD genetic mutation are said to have HD phenocopies. Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain iron accumulation type 3), dentatorubropallidoluysian atrophy and HD-like 1. There are also autosomal-recessive choreas that can be HD phenocopies: Friedreich's ataxia, neuroacanthocytosis, several forms of neurodegeneration with brain iron accumulation, ataxia telangiectasia, HD-like 3 and ataxia with oculomotor apraxia. Among X‑linked conditions, McLeod syndrome can mimic the clinical features of HD. Although less frequently, sporadic conditions, such as tardive dyskinesia and non-Wilsonian hepatolenticular degeneration, can also mimic HD.
亨廷顿舞蹈病（HD）是一种常染色体显性疾病，由4号染色体短臂上CAG重复序列扩增引起，临床特征为运动障碍、认知衰退和行为改变的组合。HD占呈现此临床症状患者的90 - 99%。其余HD基因突变检测呈阴性的患者被称为HD拟表型。可模仿HD的常染色体显性疾病有2型类亨廷顿舞蹈病、C9orf72突变、2型脊髓小脑共济失调、17型脊髓小脑共济失调（4型类亨廷顿舞蹈病）、良性遗传性舞蹈病、神经铁蛋白病（脑铁沉积所致神经退行性变3型）、齿状核红核苍白球路易体萎缩症和1型类亨廷顿舞蹈病。也有可成为HD拟表型的常染色体隐性舞蹈病：弗里德赖希共济失调、神经棘红细胞增多症、几种脑铁沉积所致神经退行性变、共济失调毛细血管扩张症、3型类亨廷顿舞蹈病和动眼性失用性共济失调。在X连锁疾病中，麦克劳德综合征可模仿HD的临床特征。虽然较为少见，但散发性疾病，如迟发性运动障碍和非威尔逊病性肝豆状核变性，也可模仿HD。
