12个亨廷顿病家系的临床特点及家系分析

发布时间：2018-05-07 19:04

本文选题：亨廷顿病 + 基因诊断　；参考：《中国神经精神疾病杂志》2016年01期

【摘要】：目的探讨亨廷顿病的临床症状、突变基因以及家系中遗传规律等。方法收集2013-2014年至中山大学附属第一医院就诊的亨廷顿病患者,绘制完整的家谱图并记录详细的临床资料。对每位患者予IT15基因诊断。对其症状改变,UHDRS评分、行为学进行评估。结果 2013年1月至2014年12月共收治12个亨廷顿病家庭,12例先证者中有2例处于症状前状态,1例青少年亨廷顿病患儿。所有确诊患者的IT15突变基因的CAG重复序列大多在40~60之间,已发病患者的起病年龄13~54岁不等。其家系分析中发现,父系遗传有遗传早现现象。12例家系中,发病晚期的患者有较典型的舞蹈症状、智能减退、精神症状的临床表现,早期发病患者临床症状多变,或以情绪与智能损害为首发症状。结论晚期亨廷顿病患者临床表现较典型,但早期亨廷顿病的症状多样且不典型,临床诊断困难,行为学改变,影像学检查有重要的参考价值,基因诊断是该疾病确诊的重要方式。
[Abstract]:Objective to investigate the clinical symptoms, mutation genes and inheritance in families of Huntington's disease. Methods Huntington's patients from the first affiliated Hospital of Sun Yat-sen University from 2013 to 2014 were collected and the complete family tree was drawn and detailed clinical data were recorded. Each patient was diagnosed with IT15 gene. The symptoms were evaluated with UHDRS score and behavior. Results from January 2013 to December 2014, a total of 12 probands with Huntington's disease were admitted. Two of them were in pre-symptomatic state and one was a teenager with Huntington's disease. Most of the CAG repeats of the IT15 mutation gene in all the patients were between 40 and 60 years old, and the onset age of the patients with the disease varied from 13 to 54 years old. In the family analysis, it was found that in 12 families, the patients with late onset had typical dance symptoms, mental retardation, clinical manifestations of mental symptoms, and the clinical symptoms of early onset patients were variable. Or with emotional and intellectual impairment as the first symptom. Conclusion the clinical manifestations of advanced Huntington's disease are typical, but the symptoms of early Huntington's disease are various and atypical, the clinical diagnosis is difficult, the behavior changes and the imaging examination have important reference value. Genetic diagnosis is an important way to diagnose the disease.
【作者单位】：中山大学附属第一医院神经内科;中国亨廷顿病协作网;瑞士伯尔尼大学神经科;欧洲亨廷顿病协作网;
【基金】：国家自然科学基金项目(编号:81171070)
【分类号】：R742.2

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