Genetic Neurological Diseases

Question 1

Mutation in what gene causes duchennes muscular dystrophy and is there more or less protein?

Answer 1

Dystrophin

There is deficiency

Question 2

What are the 4 tests you can do for Duchennes?

Answer 2

Raised serum CK
Electromyography
Muscle biopsy
Molecular genetic testing

Question 3

What is a differential in Duchennes?

Answer 3

Autosomal recessive limb girdle dystrophies (sarcoglycan deficiency)

Question 4

What comes first in Huntingtons, movement problems or behavioural signs?

Answer 4

Behavioural signs

Question 5

What is found on pathological investigation of Huntingtons?

Answer 5

Caudate nucleus atrophy (big lateral ventricles)

Question 6

What is the triplet repeat in huntingtons and what amino acid does it code for?

Answer 6

CAG

Glutamine

Question 7

What is the pathology in spinal muscular atrophy?

Answer 7

Progressive loss of anterior horn cells in spinal cord and brain stem nuclei

Question 8

What are the symptoms of spinal muscular atrophy?

Answer 8

Hypotonia
Proximal muscle weakness
Tongue fasciculation

Question 9

What is the mode of inheritance of spinal muscular atrophy?

Answer 9

Autosomal recessive

Question 10

When does spinal muscular atrophy start?

Answer 10

Trick question!

Variable

Question 11

What is the gene that is mutated in spinal muscular atrophy and is there excess or deficiency?

Answer 11

SMN1

Deficiency

Question 12

What is a potential for treatment of spinal muscular atrophy?

Answer 12

Adding an exon to SMN2 so that it functions the same as SMN1

Question 13

What percentage of cases of alzheimers are autosomal dominant and are they early or late onset?

Answer 13

5-10%

Early onset

Question 14

What other genetic condition will cause early onset (3rd or 4th decade) alzheimers?

Answer 14

Down syndrome

Question 15

What are the possible mutations in autosomal dominant alzheimers?

Answer 15

ApoE (some variants are protective)
APP mutations
Presenilin 1
Presenilin 2