BMJ Best Practice
最后审核时间: 六月 2019
最近更新时间: 三月 2019

小结

定义

病史和查体

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

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

危险因素

  • 亨廷顿基因 N 末端上的 CAG 重复序列延长
  • 家族史
  • 其他遗传因素:

诊断性检查

需要考虑的检查

  • CAG 重复检测
  • MRI 或 CT 扫描
全部具体信息

治疗流程

疾病持续状态

贡献者

Professor of Clinical Neurology

Honorary Consultant Neurologist

UCL Institute of Neurology

London

UK

利益冲突披露
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

利益冲突披露
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

利益冲突披露
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.

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Instructor

Massachusetts Eye and Ear Infirmary

Harvard Medical School

Boston

MA

利益冲突披露
AP declares that he has no competing interests.

Resident Neurology

Neurological Clinical Research Unit

Institute of Molecular Medicine

Lisbon

Portugal

利益冲突披露
TM declares that he has no competing interests.

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