Genetics

Question 1

Inheritance pattern for Huntington’s disease?

Answer 1

Autosomal dominant

Question 2

What is the name for the phenomenon in which each generation develops a genetic disease at an earlier age?

Answer 2

Genetic anticipation is a phenomenon in which the age of onset of an autosomal dominant disease becomes earlier with each successive generation.

Question 3

Psychiatric symptoms of Huntington’s disease?

Answer 3

Depression
Anxiety
Compulsions
Psychosis
Suicidality
Aggression
Blunted affect

Question 4

Cognitive symptoms of Huntington’s disease?

Answer 4

Short and long-term memory deficits

Decline in executive function

Dementia - irreversible progressive decline in global cognitive function

Question 5

What is executive dysfunction?

Answer 5

a behavioural symptom that disrupts a person’s ability to manage their own thoughts, emotions and actions.

Question 6

What are some examples of executive function decline?

Answer 6

Difficulty organizing.
Difficulty in planning and initiation (getting started)
Inability to multitask.
Difficulty with verbal fluency.
Trouble planning for the future.
Difficulty processing, storing, and/or retrieving information.

Question 7

Motor symptoms of Huntington’s disease?

Answer 7

Choreiform movements

Writhing movements

Rigidity

Gait disturbances

Problems chewing/swallowing/speaking

All actions requiring muscle control become impaired

Question 8

What are Choreiform movements?

Answer 8

involuntary, irregular, and unpredictable movements make it appear as if the affected person is dancing, twisting, restless, clumsy, or fidgety.

Question 9

What is the genetic cause of Huntington’s disease?

Answer 9

CAG repeat encoding poly-glutamine

Question 10

Possible symptoms of mania?

Answer 10

Episodes need to for at least a week.

• uncontrollable excitement
• feeling very happy or elated
• feeling irritable or very agitated
• high energy levels that the person finds hard to control
• high activity levels, such as excessive running, fidgeting, or moving around
• difficulty paying attention or focusing

Symptoms of psychosis can also appear in cases of mania.
- Hallucinations, or seeing or hearing things that are not there
- Grandiose delusions, or believing that they are invincible, very powerful, or famous

Question 11

Possible symptoms of hypomania?

Answer 11

Episodes of hypomania need to last at least 4 consecutive days.

• having a higher, happier mood than usual
• higher irritability or rude behavior
  feeling overconfident
• higher activity or energy levels than usual without a clear cause
• a powerful feeling of physical and mental wellbeing
• being much more social and talkative than usual

Question 12

What is ApoE2 and ApoE4 in Alzheimer’s disease?

Answer 12

ApoE2 allele - a gene that is protective against Alzheimer’s disease

ApoE4 allele - a gene that increases the risk of developing Alzheimer’s disease

Question 13

How is bipolar disorder inherited?

Answer 13

Autosomal dominant inheritance

Question 14

Bipolar 1 features?

Answer 14

Experiencing severe mania lasting at least 7 days

Being hospitalized during a manic episode

Encountering periods of depression (but not in every case)

Question 15

Bipolar 2 features?

Answer 15

Enduring intense depressive episodes, usually lasting longer when compared to bipolar 1

Having periods of hypomania

Not having extended manic episodes