BMD RES 5HA Lecture Notes - Lecture 3: Polyglutamine Tract, Glutamine, Nonsense Mutation
7 Oct 2016
School
Department
Course
Professor
Document Summary
Reading order for hd: the enigma (scientific america) then clinical review of hd, then lastly the huntington"s paradox. Clinical symptoms: hd is characterized by motor, cognitive, and psychiatric disturbances. Motor dysfunctions are the ones that define it- after you get motor disorder, you fully have hd: 1. Motor disturbance appears are very characteristic, unwanted dancelike movement (chorea) Dystonia (wrong type of muscle tone: 2. Cognitive disturbances usually the first to appear and affect executive (decision making) functions. Like when you open the door and other higher order stuff like prioritizing stuff you have to do today. Behaving incorrectly in social functions (be careful bc some people can"t control it: 3. Common psychiatric disturbances include irritability, anxiety, and depression. Extreme cases include obsessions and compulsions and psychosis. Rather rare; 4-10 people per 100,000 people. This means that we might be able have a window to prevent the neuronal cell death.
