Genetic Neurological Diseases Flashcards

1
Q

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

A

Dystrophin

There is deficiency

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2
Q

What are the 4 tests you can do for Duchennes?

A

Raised serum CK
Electromyography
Muscle biopsy
Molecular genetic testing

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3
Q

What is a differential in Duchennes?

A

Autosomal recessive limb girdle dystrophies (sarcoglycan deficiency)

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4
Q

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

A

Behavioural signs

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5
Q

What is found on pathological investigation of Huntingtons?

A

Caudate nucleus atrophy (big lateral ventricles)

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6
Q

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

A

CAG

Glutamine

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7
Q

What is the pathology in spinal muscular atrophy?

A

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

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8
Q

What are the symptoms of spinal muscular atrophy?

A

Hypotonia
Proximal muscle weakness
Tongue fasciculation

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9
Q

What is the mode of inheritance of spinal muscular atrophy?

A

Autosomal recessive

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10
Q

When does spinal muscular atrophy start?

A

Trick question!

Variable

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11
Q

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

A

SMN1

Deficiency

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12
Q

What is a potential for treatment of spinal muscular atrophy?

A

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

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13
Q

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

A

5-10%

Early onset

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14
Q

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

A

Down syndrome

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15
Q

What are the possible mutations in autosomal dominant alzheimers?

A

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

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