Huntington’s Disease Explained in 60 Seconds 🧬

本站添加: 2026-05-07

[00:00:00]quick crash course related to Huntington's. It is an autosomal dominant neurodegenerative disorder.

[00:00:05]Autosomal meaning it's not sex-linked and dominant meaning you only need one copy of that gene for there to be a phenotype. It is due to CAG trinucleotide repeats expansion in the HTT gene. It is seen primarily in the paternal line and this is due to the instability of the CAG repeats during spermatogenesis and it has anticipation, which means as generations go on, there's going to be longer repeats, which means earlier manifestations and when people present with it, it's worse symptoms. Typically manifests in between 30 to 50 years old. Unfortunately, there is a juvenile form of this and the onset occurs before 20 years old. And its hallmark symptoms are involuntary movements, dementia, and behavioral changes.