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Neurology > Neurogenetics > Flashcards

Neurogenetics Flashcards

1
Q

What is the mode of inheritance of duchenne muscular dystrophy?

A

X-linked recessive

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2
Q

What is the progression of duchenne muscular dystrophy?

A

Delay in motor development
Pelvic and shoulder girdle weakness at 3-4 years
Wheelchair bound by 10-12 years
Death from involvement of resp and cardiac muscles in 20s

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3
Q

What is the characteristic posture in duchenne muscular dystrophy?

A

Accentuated lumbar lordosis due to weakness in pelvic girdle muscles

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4
Q

What will occur in the legs of boys with DMD?

A

Calf hypertrophy; no strength gained just hypertrophied

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5
Q

Which protein dysfunction is DMD due to?

A

Dystrophin

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6
Q

What is the mode of action of dystrophin?

A

Connects actin filaments to the proteins at the cell membrane
Muscle cells cannot renew themselves and so will degenerate

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7
Q

What mutations result in DMD?

A

Deletion of dystrophin gene in 70%

Point mutations, small insertions in remaining 30%

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8
Q

How is DMD diagnosed?

A 
Motor developmental delay
Gower's sign 
Toe walking
Raised CK 
EMG 
Muscle biopsy 
Molecular genetic testing for deletions
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9
Q

What is the change of inheritance in a boy whose mother is a carrier?

A

1 in 2

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10
Q

Are all cases of DMD from familiar inheritance?

A

No - 30% of DMD are de novo mutations

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11
Q

What is the incidence of huntington’s disease?

A

1 in 20,000

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12
Q

At what age is huntington’s disease most likely to present?

A

Between 30 and 50

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13
Q

What are the characteristics of huntington’s disease?

A

Involuntary movements
Dementia
Progression to severe dependence and death over 15-20 years

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14
Q

What is the mode of inheritance in huntington’s disease?

A

Autosomal dominant

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15
Q

What is different about the inheritance of huntington’s disease?

A

Age dependent penetrance

Displays genetic anticipation

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16
Q

What are the early clinical signs of huntington’s disease?

A 
Clumsiness
Agitation 
Irritability 
Apathy
Anxiety
Disinhibition 
Delusions 
Hallucinations
Abnormal eye movements
Depression
17
Q

What are the later clinical signs of huntington’s disease?

A 
Dystonia
Chorea
Trouble with balance and walking
Trouble with manual dexterity
Slow voluntary movements
Difficulty initiating movement
Inability to control speed and force of movement
Wt loss 
Speech difficulties
Stubbornness
18
Q

What are the end stage signs of huntington’s disease?

A 
Rigidity 
Bradykinesia 
Severe chorea
Serious wt loss
Inability to walk 
Inability to speak 
Swallowing problems
Inability to care for oneself
19
Q

What is the basic pathogenesis of huntington’s disease?

A

Caudate atrophy

20
Q

What is the genetic basis of huntington’s disease?

A

CAG repeats which codes for glutamine - this has a neurotoxic effect

21
Q

What is the basic pathogenesis of /spinal muscular atrophy?

A

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

22
Q

What are the signs/symptoms of spinal muscular atrophy?

A

Hypotonia
Proximal muscle weakness
Tongue fasciculation

23
Q

What is the inheritance of spinal muscular atrophy?

A

Autosomal recessive

24
Q

Which gene is affected in spinal muscular atrophy?

A

SMN1 which is required for the survival of lower motor neurones

25
Q

Is there a treatment for spinal muscular atrophy?

A

Yes - synthetic oligonucleotide

26
Q

What is alzheimer’s disease?

A

Common cause of dementia; 50-70% of cases

Occurs in old age

27
Q

What is the genetic basis of alzheimer’s disease?

A

Genetic heterogeneity

28
Q

What is the basic pathology of alzheimer’s disease?

A 
Loss of cortical neurones
Neurofibrillary tangles (intracellular) 
Senile plaques (extracellular)
29
Q

What are senile plaques?

A

Extracellular protein deposits containing amyloid beta protein which is a fragment of the product of the amyloid precursor protein gene on chromosome 21

30
Q

What percentage of alzheimer’s is autosomal dominant?

A

5-10%

Commonly seen in early onset alzhemiers

31
Q

Which genes have been identified to cause autosomal dominant alzheimer’s?

A

APP mutations on chromosome 21
Presenilin 1 on chromosome 14
Presenilin 2 on chromosome 1

32
Q

Which apoprotein can predispose to alzheimer’s?

A

ApoE4

33
Q

What is the genetic basis of MS?

A

Multifactorial

Mutations in MHC haplotypes which are key regulators in the immune system

Neurology (48 decks)

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