Article
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Journal of neurology, neurosurgery, and psychiatry - 10 Apr 2025
Koriath Carolin Anna Maria, Guntoro Fernando, Norsworthy Penelope, Dolzhenko Egor, Eberle Michael, Hensman Moss Davina J, Flower Michael, Hummerich Holger, Rosser Anne Elizabeth, Tabrizi Sarah J, Mead Simon, Wild Edward J
Abstract excerpt
BACKGROUND: Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC. METHODS: Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.