Genetics CNS conditions Flashcards Preview

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Flashcards in Genetics CNS conditions Deck (11):
1

Inheritance pattern of Duchenne muscular dystrophy

X-linked recessive

2

Cause of DMD (2)

70%- large deletions in dystrophin gene
30%- point mutations, indels

3

Signs of DMD (3)

Gower's sign
Toe walking
calf hypertrophy

4

Tests in DMD (4)

Raised CK
EMG
Muscle biopsy
Genetic testing

5

Site of atrophy in Huntington's disease

Caudate nucleus

6

Cause of HD

Autosomal dominant triplet repeat (CAG) disorder

7

Autosomal dominant Alzheimers genes (3)

APP
presenilin 1
presenilin 2

8

ApoE genotype predisposing to AD

e4 allele

9

Inheritance of neurofibromatosis (3)

Autosomal dominant; variable expressivity; NF2 is 50% de novo

10

Signs of NF (4)

Cafe au lait patches
Neurofibromas
Lisch nodules (harmless hamartomas on the iris)
NF2- bilateral acoustic neuromas

11

Signs of tuberous sclerosis (4)

Shagreen patches
Cafe au lait patches
Subungual fibromas
Epilepsy