Genetics

Question 1

Which disease does not have monogenic inheritance?
a. Migraines
b. Alzheimer’s disease
c. Parkinson’s disease
d. ALS
e. multiple sclerosis

Answer 1

e. multiple sclerosis

Question 2

Presymptomatic testing for Huntington’s disease:
a. A multi-stage genetic testing process involving a clinical psychologist

Answer 2

a. A multi-stage genetic testing process involving a clinical psychologist

Question 2

Why can genetic testing results be inaccurate?
a. Due to various mutations.

Answer 2

a. Due to various mutations.

Question 3

What is the first test for suspected Duchenne muscular dystrophy in a 3-year-old?
a. Genetic testing.

Answer 3

a. Genetic testing.

Question 4

We have a pregnant woman who is about to give birth to a baby boy. Her brother
has Duchenne muscular dystrophy. Genetic analysis has shown no deletion. What
do we say to the pregnant woman?
a. Duchenne muscular dystrophy is inherited differently and the son is not at risk.
b. A boy is more likely to have Duchenne muscular dystrophy, but we don’t
know the genetic test.
c. The boy is more likely to have Duchenne muscular dystrophy and
the mother can be offered indirect genetic testing.

Answer 4

c. The boy is more likely to have Duchenne muscular dystrophy and
the mother can be offered indirect genetic testing.

Question 5

How is Duchenne MD inherited?
a. X-linked recessive

Answer 5

a. X-linked recessive

Question 6

Inheritance of Huntington’s disease - father had the disease, son also genetically
proven. What do you tell him about the children?
a. half of a woman’s offspring will have the disease
b. half of male offspring will have the disease
c. half your offspring will have the disease
d. one quarter of offspring will have the disease

Answer 6

c. half your offspring will have the disease

Question 7

What are monogenic diseases?
a. Parkinson’s disease
b. multiple sclerosis
c. Alzheimer’s disease
d. a+b
e. a+c

Answer 7

e. a+c

Question 8

Which test has improved the sensitivity of genetic tests?
a. PCR
b. FISH

Answer 8

a. PCR

Question 9

Which approach can often identify the genetic aetiology of neurological diseases in
clinical practice?
a. with a good family history and pedigree construction (3
generations).
b. neurophysiological tests (EMG, EEG, evoked potentials)
c. with imaging tests (CT/MRI)
d. by biochemical tests
e. by biopsy of muscle or other tissues

Answer 9

a. with a good family history and pedigree construction (3
generations).

Question 10

Which disease does not have triplet relapses:
a. Friedreich’s ataxia (GAA)
b. spinobulbar muscular atrophy (CAG)
c. neurofibromatosis 1
d. Huntington’s disease (CAG)
e. Myotonic dystrophy (CTG)

Answer 10

c. neurofibromatosis 1

Question 11

Why genetic tests have lower specificity in hereditary sensory and motor
polyneuropathy:
a. lower penetration
b. sequencing errors
c. genetic heterogeneity
d. somatic mosaicism

Answer 11

c. genetic heterogeneity

Question 12

How to suspect that a disease is inherited in the family:
a. early appearance
b. fast progression
c. non-response to treatment

Answer 12

a. early appearance

Question 13

Websites offering genetic tests:
a. have no value
b. are good for pre-symptomatic testing
c. are important for treatment

Answer 13

a. have no value

Question 14

Inheriting Wilson’s disease:
a. autosomal dominant
b. autosomal recessive
c. X-linked
d. Y-vezano

Answer 14

b. autosomal recessive

Question 15

Why does genetic treatment (diagnosis) of genetically determined
neurological diseases make sense?
a. because it has a place in diagnosis, prognosis assessment and
primary prevention.
b. because we can learn a lot about the pathogenesis of disease in the clinic
c. because it allows the generalisation of genetic tests and access to
testing for anyone who wants it
d. genetic treatment significantly improves the treatment of neurological
diseases in most cases
e. genetic treatment for neurological diseases is not reasonable

Answer 15

a. because it has a place in diagnosis, prognosis assessment and
primary prevention.

Question 16

What does genetic heterogeneity of disease mean?
a. the disease can have a variety of causes, both genetic and non-genetic
b. the disease can be caused by mutations in the same gene
c. the disease can be caused by mutations in different genes
d. the disease may present with a variety of signs and symptoms
e. none of the above

Answer 16

c. the disease can be caused by mutations in different genes

Question 17

Where do we ignore monogenic genetics?
a. Alzheimer’s disease
b. Parkinson’s disease
c. neurofibromatosis
d. tension headache

Answer 17

d. tension headache

Question 18

A pregnant woman in her 9th week comes to see her family doctor. She is scared
because her brother has Duchenne MD and her uncle died because of it. Her
brother’s genetic test for a deletion on dystrophin was negative. What do we say to
her?
a. her child cannot be at risk, depending on the type of inheritance
b. is at risk and is offered appropriate genetic testing
c. because she shows no signs, the child can’t be either
d. because the brother’s test is negative, the child is not at risk
e. child is at risk, but in the sense that we can’t do anything

Answer 18

b. is at risk and is offered appropriate genetic testing

Question 19

The patient takes an online genetic test and is told that they have a higher risk of
Alzheimer’s disease. What will you do as a GP?
a. you tell him that the test has no clinical value
b. you tell him that although he has no clinical value, you do a basic
neurological examination, check his memory functions
c. you send him to a neurologist

Answer 19

a. you tell him that the test has no clinical value

Question 20

Why we need to know if the disease is genetic (circle incorrect):
a. treatment
b. Forecast
c. Prevention
d. rehabilitation

Answer 20

d. rehabilitation

Question 21

A warning condition that does not predict a possible genetic defect:
a. some information about relatives and early disability
b. jaundice in an infant

Answer 21

b. jaundice in an infant

Question 22

17-year-old boy with ataxia, cardiomyopathy, areflexia. Which statement is true?
a. the disease is not genetic
b. the disease is genetic due to the typical acute onset of symptoms
c. ataxia and areflexia are genetically determined; cardiomyopathy is
due to chance
d. ataxia and areflexia are genetic; cardiomyopathy occurs in the context of
another genetic disease
e. none of the above
Which test would you do on him?
f. DNA testing for evidence of FRDA gene mutation on chromosome 9

Answer 22

e. none of the above
f. DNA testing for evidence of FRDA gene mutation on chromosome 9

Question 23

Which is the most obvious genetic defect?
a. 17-year-old boy with proximal weakness
b. 10-year-old boy who has been in a wheelchair since the age of 4 because
he could no longer walk
c. some older, non-possible stroke descriptions

Answer 23

b. 10-year-old boy who has been in a wheelchair since the age of 4 because
he could no longer walk

Question 24

Which test would you do on a 3-year-old boy with symptoms of muscular dystrophy
in the first stage to confirm the diagnosis?
a. MR
b. CT
c. lumbar puncture
d. genetic test
e. biopsy

Answer 24

d. genetic test

Question 25

A 50-year-old woman has Alzheimer’s disease and a PSEN1 mutation. What do we
tell our son?
a. there is no risk because most dementias are not inherited
b. that there is no danger because it is probably a de novo mutation
c. 50% of AB’s son will have
d. 25% that AB’s son will have
e. my son will definitely have AB

Answer 25

c. 50% of AB’s son will have

Question 26

Which of the inherited neurological disorders is most common:
a. Duchenne dystrophy
b. Pompe disease
c. myasthenia gravis
d. McArdle’s disease
e. myotubular myopathy

Answer 26

a. Duchenne dystrophy

Question 27

A man goes to the doctor, has a family history of Alzheimer’s disease and has a
50% chance of having the gene. His 9-year-old daughter seems to be forgetting
things and asks you for genetic testing. What do you do?
a. always test parents and child together
b. you test the father first, then the daughter
c. you don’t get tested, because we don’t have tests for diseases that occur in
adulthood
d. you don’t test because the probability must be more than 55%
e. we do not offer genetic testing for adult-onset diseases in children

Answer 27

e. we do not offer genetic testing for adult-onset diseases in children

Question 28

The 45-year-old patient had a father with Huntington’s disease. Is it possible for her to
get sick?
a. The risk is 50%, and a genetic test can detect a genetic
predisposition at a time when a person is not yet showing
signs of the disease.
b. the risk is 50%, a genetic test cannot detect a genetic
predisposition before the onset of the disease

Answer 28

a. The risk is 50%, and a genetic test can detect a genetic
predisposition at a time when a person is not yet showing
signs of the disease.

Question 29

At 28, the patient develops signs of Parkinson’s disease, and his father also had
the disease. What is the most likely aetiology of the disease in the family?
a. Parkinson’s disease is polygenic, with several genes contributing to the
disease
b. monogenic genetic aetiology is most likely
c. father and son can carry a balanced chromosomal translocation
d. mitochondrial inheritance is possible
e. no answer is correct

Answer 29

b. monogenic genetic aetiology is most likely

Question 30

Which method is used for heterogeneous diseases?
a. next generation sequencing
b. karyotype
c. some other sequencing
d. FISH

Answer 30

a. next generation sequencing

Question 31

A medical student comes for a consultation because his father has Huntington’s
disease.
a. She does not receive genetic counselling because Huntington’s disease is not
curable.
b. She only gets genetic counselling if she wants to have offspring.
c. Genetic counselling is carried out even in the absence of treatment
because the measures can improve quality of life.
d. She gets genetic counselling because gene therapy is available

Answer 31

c. Genetic counselling is carried out even in the absence of treatment
because the measures can improve quality of life.