基因诊断可有效排除疑似亨廷顿舞蹈病的舞蹈症患者

亨廷顿舞蹈病是一种由(CAG)n重复序列异常扩展所致的常染色体神经变性疾病。目前发病机制不明。临床上其他疾病, 如齿状核-红核-苍白球-底丘脑核萎缩、类似亨廷顿病2和脊髓小脑性共济失调17型等也可有舞蹈样动作,当亨廷顿舞蹈病缺乏典型临床症状及影像学改变时,与上述疾病很难鉴别。

SICENCE新闻发布 作者：喻明霞 稿号：N201305010 基因诊断可有效排除疑似亨廷顿舞蹈病的舞蹈症患者

亨廷顿舞蹈病是一种由（CAG）n重复序列异常扩展所致的常染色体显性遗传的神经变性疾病。目前发病机制不明。临床上其他疾病, 如齿状核-红核-苍白球-底丘脑核萎缩、类似亨廷顿病2和脊髓小脑性共济失调17型等也可有舞蹈样动作，当亨廷顿舞蹈病缺乏典型临床症状及影像学改变时，与上述疾病很难鉴别。中国武汉大学中南医院喻明霞博士所在团队，通过基因突变分析疑似患者的IT15基因（CAG）n重复数目以是否异常扩展，可有效排除疑似亨廷顿舞蹈病的临床舞蹈症患者。另外，对临床上以进行性加重的舞蹈样动作为主，而无明显的痴呆、精神异常及影像学改变的舞蹈症患者进行IT15基因突变分析，说明临床上对于亨廷顿舞蹈病的确诊，应需要依赖临床“三联征”、影像学改变及基因诊断等的联合分析。研究结果发表于《中国神经再生研究（英文版）》杂志2014年2月第4期。

基因测序显示亨廷顿舞蹈病先证者共存在49个重复CAG

Article: " Examination of Huntington’s disease in a Chinese family," by Mingxia Yu, Xiaogai Li, Sanyun Wu, Ji Shen, Jiancheng Tu (Department of Clinical Laboratory Medicine & Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei Province, China)

Yu MX, Li XG, Wu SY, Shen J, Tu JC. Examination of Huntington’s disease in a Chinese family. Neural Regen Res. 2014;9(4):440-446.

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Genetic diagnosis can rule out a suspected Huntington's chorea patient

Huntington’s disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear. Although patients with a family history have more typical clinical symptoms, signs, and pathological changes, as well as an unambiguous clinical diagnosis, other diseases with dance-like movements, e.g., dentatorubral-pallidoluy-sian atrophy, spinocerebellar ataxia type 17, Huntington’s disease-like-2, and neuroferritinopathy, are difficult to identify and distinguish from Huntington’s disease. By mutation screening for CAG repeats in the Huntington’s

亨廷顿舞蹈病是一种由(CAG)n重复序列异常扩展所致的常染色体神经变性疾病。目前发病机制不明。临床上其他疾病, 如齿状核-红核-苍白球-底丘脑核萎缩、类似亨廷顿病2和脊髓小脑性共济失调17型等也可有舞蹈样动作,当亨廷顿舞蹈病缺乏典型临床症状及影像学改变时,与上述疾病很难鉴别。

SICENCE新闻发布 作者：喻明霞 稿号：N201305010 disease-associated candidate gene, IT15, using reverse transcription-polymerase chain reaction, T-A cloning, and

sequencing, Dr. Mingxia Yu and coworkers from Zhongnan Hospital of Wuhan University in China provide a global analysis incorporating clinical symptoms, imaging examinations, and gene diagnosis, of Huntington’s disease. Their findings,

published in the Neural Regeneration Research (Vol. 9, No. 4, 2014), suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

Sequencing analysis identifed a total of 49 CAG repeats in the IT15 gene from the proband.

Article: " Examination of Huntington’s disease in a Chinese family," by Mingxia Yu, Xiaogai Li, Sanyun Wu, Ji Shen, Jiancheng Tu (Department of Clinical Laboratory Medicine & Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei Province, China)

Yu MX, Li XG, Wu SY, Shen J, Tu JC. Examination of Huntington’s disease in a Chinese family. Neural Regen Res. 2014;9(4):440-446.