Psychiatry Genetics

Question 1

What type of inheritance is huntingtons

Answer 1

autosomal dominant

complete penetrance

Question 2

What is the mutation in huntingtons

Answer 2

expansion of the CAG triplit causes a longer chain of glutamines I the huntingtin protein causing it to be mishapen

Question 3

What is anticipation

Answer 3

the phenomenon that a genetic condition, when passes down to the next generation has an earlier onset in the succeeding generation

Question 4

What are usually the first symptoms in huntingtons disease

Answer 4

Depression and anxiety are often the first signs
Compulsions
Suididal thoughts
Psychosis
Aggression
Blunted affect

Question 5

what cognitive symptoms can occur in huntingtons

Answer 5

decline in executive function
short and long term memory deficits
dementia

Question 6

What motor symptoms occur in huntingtons

Answer 6

choreiform movements
rididity
problems chewing/speaking.swallowing
gait disturbance
writhing

Question 7

What is the most common cause of dementia

Answer 7

Alzheimer’s

Question 8

what is the neuropathological hall mark of alzheimers disease

Answer 8

formation of amyloid plaques which cause inflammation and neurofbriallary tangles

Question 9

Which area is first affect in alzheimers

Answer 9

nucleus basalis

- where most cholinergic pathways in the brain start

Question 10

Define episodic, semantic and implicit memory

Answer 10

Episodic -remembering things that happened a long time ago
Semantic- facts learned a long time ago
Implicit- tasks that are well practiced

These areas not as affected in alzheimers

Question 11

What features suggest a familial form of a disease

Answer 11

many relatives affected
relatvies affected at a younger age
unusual/atypical disease