Psychiatric Genetics Flashcards
What are the psychiatric symptoms assoc with huntington’s disease?
Depression Compulsions Suicidality Aggression Blunted affect Psychosis Anxiety
What cognitive symptoms are associated with huntington’s disease?
Decline in executive function
Short and long term memory deficits
Dementia; progressive decline in global cognition
What motor symptoms are assoc with huntington’s disease?
Choreiform movements Writhing movements Gait disturbance Problems chewing/ swallowing/ speaking Rigidity
Genetic basis of huntington’s disease?
CAG repeat which results in poly-glutamine in the huntingtin protein
How many CAG repeats are pathogenic?
38
What is special about the genetic inheritance of huntington’s disease?
Shows genetic anticipation - more so from the father
Pathogenesis of alzheimer’s disease?
Shrinkage of hippocampus and enlargement of ventricles
Formation of extracellular amyloid plaques, which cause inflammation and neurofibrillary tangles within the cell’s tau-protein involved in the microtubules
What are the symptoms of alzheimer’s disease?
Short term memory dysfunction Dysphasia Dyspraxia Agnosia Mood symptoms Psychosis Behavioural disturbances Cognitive decline
Genetic risk factors for early onset alzheimer’s disease?
Presenilin 1/2
APP
What is a polymorphism assoc with alzheimer’s disease?
ApoE4
What will spect show in alzheimer’s disease?
Decreased uptake in medial temporal lobes
How genetic is bipolar disorder?
Recurrent in dizygotic twins; 14%
Recurrence in monozygotic twins; 57%
