小结
定义
病史和体格检查
关键诊断因素
- 阳性亨廷顿病家族史
- 已知亨廷顿基因 N 末端上 CAG 重复序列的延长情况
- 工作或学习能力受损
- 人格改变
- 易激惹和冲动
- 舞蹈病
- 颤搐或躁动
- 丧失协调能力
- 精细动作协调缺陷
- 快速(扫视)眼球运动变慢
- 持续运动不能
- 足尖足跟衔接行走受损
其他诊断因素
- 注意力受损/任务焦虑或冷漠
- 相对于配偶/兄弟姐妹认知能力下降
- 个人习惯/卫生改变
- 脱抑制或异常焦虑行为
- 抑郁症、强迫症和冲动
危险因素
- 亨廷顿基因 N 末端上的 CAG 重复序列延长
- 其他遗传因素
- 家族史
诊断性检查
首要检查
- 无初始试验
需考虑的检查
- CAG 重复检测
- MRI 或 CT 扫描
治疗流程
所有患者
撰稿人
作者
Sarah J. Tabrizi, MD, FRCP, PhD, FMedSci
Professor of Clinical Neurology
Honorary Consultant Neurologist
UCL Institute of Neurology
London
UK
利益声明
SJT receives grant funding for her research from CHDI Foundation, the BBSRC, Dementia and Neurodegenerative Disease Network UK, European Huntington’s Disease Network, Huntington’s Disease Association of the UK, the Medical Research Council UK, Takeda Pharmaceuticals, the UCL/UCLH Biomedical Research Centre, and the Wellcome Trust. In the past year, SJT has been on advisory boards or had consultancies with F. Hoffmann-La Roche Ltd, Ixico Technologies, Shire Human Genetic Therapies, Takeda Pharmaceuticals International, and TEVA Pharmaceuticals. All honoraria for these consultancies and advisory boards were paid to UCL. Through the offices of UCL Consultants Ltd, a wholly owned subsidiary of University College London, SJT has undertaken consultancy services for F. Hoffmann-La Roche Ltd and GSK. ST is also an author of references cited in this topic.
Peter McColgan, MB ChB, MRCP
Wellcome Trust Clinical Research Fellow
UCL Institute of Neurology
London
UK
利益声明
PM declares that he has no competing interests.
David Craufurd, MB BS, MSc, FRCPsych
Senior Lecturer in Neuropsychiatric Genetics
University of Manchester
Manchester Academic Health Sciences Centre and Central Manchester University Hospitals NHS Foundation Trust
St Mary's Hospital
Manchester
UK
利益声明
DC has received fees for advisory board membership from Hoffmann-La Roche Ltd.
鸣谢
Dr Sarah Tabrizi, Dr Peter McColgan, and Dr David Craufurd would like to gratefully acknowledge Dr Marianne Novak and Dr Francis Walker, previous contributors to this monograph. FW declares that he has no competing interests. MN is author of a reference cited in this monograph.
同行评议者
Adrian Priesol, MD, FRCPC
Instructor
Massachusetts Eye and Ear Infirmary
Harvard Medical School
Boston
MA
利益声明
AP declares that he has no competing interests.
Tiago Mestre, MD, MSc
Resident Neurology
Neurological Clinical Research Unit
Institute of Molecular Medicine
Lisbon
Portugal
利益声明
TM declares that he has no competing interests.
鉴别诊断
- 迟发性运动障碍
- 齿状核红核苍白球路易氏体萎缩症 (DRPLA)
- 神经棘红细胞增多症
更多 鉴别诊断指南
- 临床遗传学实验室标准和指南 2014 版:亨廷顿病的技术标准和指南
- 亨廷顿病物理治疗临床指南
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