Article
Identification of extreme motor phenotypes in Huntington's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2017
Braisch Ulrike, Hay Birgit, Muche Rainer, Rothenbacher Dietrich, Landwehrmeyer G Bernhard, Long Jeffrey D, Orth Michael
Abstract excerpt
The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
