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Phys > CNS channelopathies > Flashcards

CNS channelopathies Flashcards

1
Q

What is the occurrence of episodic ataxia?

A

1:100000

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2
Q

What is type 1 episodic ataxia caused by?

A

KCNA1 (Kv) dominant mutation

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3
Q

What is the onset of type 1 episodic ataxia?

A

10-20years

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4
Q

What is type 2 episodic ataxia caused by?

A

Autosomal dominant mutation in CACNA1a

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5
Q

What is the onset of type 2 ataxia?

A

Child to teens

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6
Q

What is the trigger for type 1 episodic ataxia?

A

Physical/ emotional stress, vestibular system, abrupt change position

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7
Q

What are symptoms of type 1 episodic ataxia?

A

Ataxia, dizziness and visual blurring

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8
Q

What does KCNA1 mutant do?

A

Much reduced current, loss of function mutation which results in increased excitability of the cell as cell has lower repolarisation

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9
Q

What are treatments for type 1 episodic ataxia?

A

Acetazolamide- Carbonic anhydrase inhibitor which changes bicarbonate handling in kidney which dampens cerebellum
Phenytoin- Sodium channel blocker
Carbamazepine- Sodium channel blocker

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10
Q

What is the trigger for type 2 episodic ataxia?

A

Physical and emotional stress

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11
Q

What are the symptoms of Type 2 episodic ataxia?

A

Ataxia, trunk instability, nystagmus, vertigo, nausea, vomitting, headache

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12
Q

Where is KCNA1?

A

In NMJs and cerebellum

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13
Q

Where is CACNA1A?

A

Cerebellum

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14
Q

What is the structure of CACNA1A?

A

24 trans, 4 voltage sensory, 4 pore regions, P/Q type calcium channel

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15
Q

What happens with CACNA1A mutant?

A

Not enough NT release. Opens later (at high Vm, and less current through)

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16
Q

What is treatment for type 2?

A

Acetazolamide

17
Q

What is the occurrence of epilepsy?

A

0.5-1%

18
Q

What is HCN?

A

Hyperpolarisation-activated cyclic nucleotide gated channel for depolarisation

19
Q

What mutations can Nav1.1 have?

A

Missense or truncation - determine type of epilepsy

20
Q

What is Nav1.1 for?

A

AP firing in inhibitory neuron

21
Q

What does KO Nav1.1 mice show?

A

Ability of neutrons in mutant to fire AP is reduced so less activation of GABAaR on post so post moves closer to threshold so can fire more APs

22
Q

What is the location of GABAaR?

A

Post synaptic membrane of excitiatory neuron

23
Q

Where is AChR?

A

Post synaptic membrane of excitatory neurons

24
Q

What is the location of Nav1.2?

A

Excitatory neurons

25
Q

What does Kv7.2 do?

A

Changes the resting Vm so increase the firing rate

26
Q

What do mutations in HCN and Kv7.2 do?

A

Increase in firing rate of AP

Phys (35 decks)

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