最近审阅: 4 十一月 2020
最近更新: 13 七月 2018

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

治疗流程

进行中

撰稿人

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.

Wellcome Trust Clinical Research Fellow

UCL Institute of Neurology

London

UK

利益声明

PM declares that he has no competing interests.

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.

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.

同行评议者展开全部内容

Instructor

Massachusetts Eye and Ear Infirmary

Harvard Medical School

Boston

MA

利益声明

AP declares that he has no competing interests.

Resident Neurology

Neurological Clinical Research Unit

Institute of Molecular Medicine

Lisbon

Portugal

利益声明

TM declares that he has no competing interests.

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