Huntington’s disease and HD-like disorders

Published on July 1, 2014   23 min

You are viewing a talk that is a part of one of our comprehensive courses. Additional learning material: case studies, projects, workshops and recommended reading; multiple choice questions and suggested exam questions with model answers are available on application. Learn more

Other Talks in the Series: The Genetic Basis of Neurological Disorders

0:00
"Huntington's Disease and HD-like Disorders." Sarah Tabrizi, professor of neurology at the Institute of Neurology, University College London.
0:11
Genetic causes of chorea: HD and HD-like disorders. HD-like disorders can be called HD phenocopies. They're all characterized by variable presentation of chorea, dystonia, and parkinsonism, cognitive impairment, and psychiatric disturbance.
0:31
The CAG repeat diseases comprise Huntington's disease, DRPLA, SBMA, and SCA1, 2, 3, 6, 7 and 17. They're sometimes called the PolyQ disorders.
0:48
Huntington's disease.
0:52
This was first described by George Huntington in 1872. It is the commonest genetic cause of chorea. It is dominantly inherited. And the mean age of onset is about 40. About 8% of new cases have no family history.