Psychiatric genetics Flashcards
Genetic inheritance of Huntington’s
Autosomal dominant
Which gene is responsible in Huntingtons. What does it do?
Huntingtin
Codes for Huntingtin protein- CAG triplet (Glutamine) repeat
What does more CAG repeats cause
Longer glutamine chains in protein causes huntingtin protein to be misshapen.
Causes gradual damage to brain cells.
Psychiatric symptoms of Huntingtons?
Depression Compulsion Suicidal Aggressive Blunted affect Psychosis Anxiety Depression
Cognitive symptoms of Huntington’s?
Decline in executive function
Short and long term memory deficit
Dementia
Motor symptoms of Huntington’s?
Choreiform movement
Writhing movement
Gait disturbance
Speech/chewing/swallowing problems
Rigidity
ie all actions requiring muscle control become impaired
What is a choreiform movement?
a brief irreglar non-repetitive movement.
Features of Huntington’s?
Usually asymptomatic until adulthood
Irreversible and unstoppable
Only symptomatic treatment
V easy genetic test
Prominent symptoms of Alzheimers?
Short term memory (learning new things hard)
facts and memories from a long time ago
Dysphasia
Dyspraxia
Agnosia
Mood symptoms
Risk of Alzheimers if one 1st degree relative affected?
25%
recurrence of BPAD in monozygotic twins?
57%
Recurrence of BPAD in dizygotic twins?
14%