Psychiatric Genetics Flashcards
What inheritance pattern does Huntington’s Disease follow?
Autosomal dominant
What protein does the huntingtin gene encode for?
huntingtin
Which triplet repeat is responsible for the brain cell damage?
CAG - glutamate
what does this CAG triplet repeat cause?
longer glutamate chain which causes the hungtingtin protein to be misshapen
What can be predicted about age of onset with the number of CAG triplet repeats there are?
increased repeats = younger age of onset and increased severity
What psychiatric symptoms are seen in HD?
depression anxiety psychosis blunted affect aggression suicidality compulsions
What cognitive symptoms are seen in HD?
Decline in executive function
short and long term memory deficits
dementia - progressive global cognitive decline
What motor symptoms are seen in HD?
rigidity choreiform movements writhing movements gait disturbance problems chewing/swallowing/speaking all actions requiring muscle control become impaired
Is there a cure for Huntington’s disease?
no - only symptomatic treatment is available
How does HD progress?
slow onset neurological and psychological symptoms
What is the average life expectancy of an AD patient post-diagnosis?
7 years
What is the most common cause of dementia?
Alzheimers disease
What are the most common symptoms of AD?
short term memory dysfunction
dysphasia
dyspraxia
agnosia
What is involved in the neuropathology of AD?
formation of extracellular amyloid plaques which cause inflammation
+
neurofibrillary tangles made of tau protein - hyperphosphorylation
genes + environment in a susceptible individual = ?
disease
