Genetics Flashcards
What is the inheritance pattern for Huntingdon’s disease? What is the % chance a child will inherit this condition?
AD
50%
What is the term used to describe the concept of a generation developing a genetic disease at an earlier age?
Anticipation
What is the mutation found in Huntingdon’s disease?
CAG repeat encoding polyglutamine
List psychological symptoms present in Huntingdon’s disease
Depression Anxiety Psychosis Blunted affect Aggression Suicidality Compulsions
List cognitive symptoms present in Huntingdon’s disease
Reduced executive function
ST and LT memory deficits
Dementia
List motor symptoms present in Huntingdon’s disease
Rigidity Chorea Writhing Gait disturbance Problems chewing/ swallowing/ speaking
Describe the clinical course and onset of Huntingdon’s disease
Asymptomatic until adulthood
Slow onset of symptoms
What is the inheritance pattern for Alzheimer’s disease?
Multifactorial with a genetic component
Describe the clinical course of Alzheimer’s disease
Progressive decline in global cognitive ability
List the three main neurobiological changes in Alzheimer’s disease
Extreme shrinkage of cerebral cortex
Extreme shrinkage of hippocampus
Severely enlarged ventricles
What points in the FHx of Alzheimer’s would result in an increased genetic risk for children?
More relatives affected
Relatives affected at younger age
Unusual or atypical features
What features in a person’s FHx would be suggestive of early onset familial Alzheimer’s disease?
3 affected individuals < 60yo
What is the inheritance pattern for bipolar disorder?
Multifactorial with a genetic element
Having a FHx of bipolar disorder, increases your risk of having bipolar disorder. True/ False?
True
What are the three parts of the Iceberg model of inheritance, starting from the bottom?
Close to population risk
More than multifactorial risk
Possible mutation
