Neurogenetics

Question 1

What type of genetic inheritance leads to duchenne muscular dystrophy?

Answer 1

X linked recessive

Question 2

What type of genetic inheritance leads to huntington’s diseasse?

Answer 2

Autosomal dominant

Question 3

What type of genetic inheritance leads to MS and alzheimer disease

Answer 3

Genetic heterogenicity/multifactorial

Question 4

What is the underlying pathology that causes DMD?

Answer 4

Deficiency in the dystrophin protein due to deletions of dystrophin gene

Question 5

What are the clinical features of DMD

Answer 5

Muscle weakness causing toe walking

Gowers sign

Question 6

What investigations can be used to diagnose DMD?

Answer 6

Serum CK

EMG

Muscle biopsy

Molecular genetic testing to screen for deletions

Question 7

What are the clinical features of Huntington disease?

Answer 7

Involuntary movements

Dementia

Progression to severe dependency and death over 15-20 years

Question 8

What are the 3 pathological features of Alzheimers?

Answer 8

Loss of cortical neurones

Neurofibrillary tangle (Intracellular)

Senile plaques (Extracellular)

Question 9

What are senile plaques?

Answer 9

Extra cellular protein deposits containing amyloid beta protein

Question 10

What is amyloid beta protein?

Answer 10

A fragment of the product of the amyloid precursor protein gene (Chromosome 21)

Question 11

What is the relationship between apolipoprotein and alzheimers?

Answer 11

3 alleles

e4 predisposes to alzheimers with clustering in some families

e2 associated with longevity