Psychiatric Genetics Flashcards

1
Q

What inheritance pattern does Huntington’s Disease follow?

A

Autosomal dominant

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2
Q

What protein does the huntingtin gene encode for?

A

huntingtin

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3
Q

Which triplet repeat is responsible for the brain cell damage?

A

CAG - glutamate

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4
Q

what does this CAG triplet repeat cause?

A

longer glutamate chain which causes the hungtingtin protein to be misshapen

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5
Q

What can be predicted about age of onset with the number of CAG triplet repeats there are?

A

increased repeats = younger age of onset and increased severity

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6
Q

What psychiatric symptoms are seen in HD?

A
depression
anxiety 
psychosis 
blunted affect 
aggression 
suicidality 
compulsions
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7
Q

What cognitive symptoms are seen in HD?

A

Decline in executive function

short and long term memory deficits

dementia - progressive global cognitive decline

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8
Q

What motor symptoms are seen in HD?

A
rigidity 
choreiform movements 
writhing movements 
gait disturbance 
problems chewing/swallowing/speaking
all actions requiring muscle control become impaired
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9
Q

Is there a cure for Huntington’s disease?

A

no - only symptomatic treatment is available

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10
Q

How does HD progress?

A

slow onset neurological and psychological symptoms

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11
Q

What is the average life expectancy of an AD patient post-diagnosis?

A

7 years

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12
Q

What is the most common cause of dementia?

A

Alzheimers disease

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13
Q

What are the most common symptoms of AD?

A

short term memory dysfunction

dysphasia

dyspraxia

agnosia

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14
Q

What is involved in the neuropathology of AD?

A

formation of extracellular amyloid plaques which cause inflammation

+

neurofibrillary tangles made of tau protein - hyperphosphorylation

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15
Q

genes + environment in a susceptible individual = ?

A

disease

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16
Q

What is the lifetime risk of AD?

What if one affected 1st degree relative?

A

10%

25% with affected 1st degree relative

17
Q

How genetic is bipolar disorder?

A

VERY

recurrence in dizygotic twins - 14%

recurrence in monozygotic twins - 57%

18
Q

How is Bipolar Disorder inherited?

A

We don’t know!