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Flashcards in Genetics Deck (12)
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1
Q

what type of inheritance is DMD

A

x-linked recessive

2
Q

what type of inheritance is Huntington disease

A

autosomal dominant

3
Q

what is signs/symptoms in DMD

A
  • delay in motor development
  • pelvic and shoulder girdle weakness
  • calf hypertrophy
  • Gower’s sign
  • toe walking
4
Q

what causes DMD

A

dystrophin deficiency

5
Q

what investigations are done for DMD

A
serum CK (very elevated)
muscle biopsy
6
Q

features of Huntington disease

A

dementia

involuntary movements

7
Q

what pathological signs are seen in Huntington’s

A
  • caudate atrophy
  • putamen atrophy
  • loss of GABAergic neurons of the basal ganglia
  • enlargement of the frontal horns of the lateral ventricles
8
Q

what does the Huntington gene code for

A

CAG (which codes for glutamine)

9
Q

what is the pathology of alzheimer disease

A
Loss of cortical neurones
Neurofibrillary tangles (intracellular)
Senile plaques (extracellular)
10
Q

what are senile plaques composed of

A

amyloid β protein

also called amyloid plaques

11
Q

what are the mutations linked with Alzheimer disease

A
APP mutations (chromosome 21)
Presenilin 1 (chromosome 14)
Presenilin 2 (chromosome 1)
12
Q

what ApoE allele predisposes to Alzheimer disease

A

e4