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Neurology > Parkinson's & Huntington's > Flashcards

Parkinson's & Huntington's Flashcards

1
Q

What is Parkinson’s disease?

A

Degenerative disorder of the CNS, mainly affecting the motor system

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2
Q

What is the mean age onset of Parkinson’s?

A

45-60

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3
Q

What causes Parkinson’s?

A

Idiopathic usually

There are some genetic mutations that can cause it

Drugs
Trauma, boxing
Copper toxicity: Wilson’s disease

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4
Q

What is the pathogenesis of Parkinson’s?

A

Loss of dopaminergic neurons in the basal ganglia, mostly the substantia nigra

Surviving neurons contain aggregations of protein, called Lewy bodies

Symptoms are only seen when dopamine levels are 20-40% of normal

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5
Q

What is the significance of the presence of Lewy bodies in Parkinson’s?

A

If Lewy bodies are seen throughout the brain, then dementia will be seen in addition to the other features of Parkinson’s?

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6
Q

Clinical presentation of Parkinson’s?

A

Tremor
Rigidity
Bradykinesia

Bilateral, though one side is always more affected

Abnormal gait
Speech
They stare, with eyes that don’t blink as often

Depression
Dementia
Hallucinations

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7
Q

Describe the gait of someone with Parkinson’s?

A

Slow shuffling steps
Stooped posture
Reduced arm swinging
Narrow based: feet are close together

Appears as if they can’t get their feet off the floor

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8
Q

Describe the speech of someone with Parkinson’s?

A

Slow, monotonous

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9
Q

What type of tremor do Parkinson’s patients get?

A

Resting tremor

- Pill-rolling of thumb over fingers

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10
Q

What is bradykinesia?

A

Slowness of movement:

  • slow to walk
  • slow to perform tasks, write, do up buttons
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11
Q

What does rigidity mean?

A

Increased resistance to passive movement

Equal in extensors and flexors

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12
Q

Investigations of Parkinson’s?

A

Clinical

MRI is normal

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13
Q

What are some non-motor features of Parkinson’s?

A

Loss of sense of smell

Constipation
Increased urinary frequency + incontinence

Visual hallucinations
Dribbling
Depression
Dementia

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14
Q

Treatment of Parkinson’s?

A

Exercise + physio

L-dopa: main treatment

Other drugs that aim to increase dopamine levels in the brain

Surgery: rarely used

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15
Q

What is L dopa?

What is the full name of L-dopa?

A

A drug used to treat Parkinson’s

It is the precursor to dopamine, so it is able to cross the blood-brain barrier, get into the basal ganglia and increase dopamine levels there

Full name = Levodopa

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16
Q

What 3 different types of L-dopa are there?

A

Dispersable: gives a kick start in the morning

Standard release: day time medication

Slow release: keeps them comfortable at night time

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17
Q

Depression in Parkinson’s is simply reactive due to the diagnosis.

True or false?

A

False

It’s not just reactive depression

18
Q

What are the problems with L-dopa?

A

It’s effect can start to wear off over time

Can cause impulsive behaviours, like gambling, sexual behaviours

19
Q

What are some causes of Parkinsonism?

A

Dopamine antagonists

Wilson’s disease

Progressive supranuclear palsy

20
Q

What is essential tremor?

A

A familial inherited condition causing a tremor of the arms and head

It often occurs in the elderly

It is benign

21
Q

What is the inheritance pattern for benign essential tremor?

A

Autosomal dominant

22
Q

How can you distinguish between essential tremor and Parkinson’s tremor?

A

Essential tremor is not usually seen at rest, more so when the hands adopt a posture (holding a cup for example)

Essential tremor may be improved by alcohol, anti-convulsants

Essential tremor can be made worse by anxiety

Parkinson’s tremor will be accompanied with other symptoms: stooped posture, abnormal gait

23
Q

What does dyskinesia mean?

A

Problems that affect voluntary movement:

Uncontrollable movements, like chorea, tics

24
Q

What does akinesia mean?

A

Loss of the power of voluntary movement

25
Q

What are some conditions that cause dyskinesia?

A

Benign Essential Tremor

Chorea

Huntington’s disease

Hemiballismus

Myoclonus

Tics

Dystonia

26
Q

What is chorea?

A

A continuous flow of jerky, partly purposive movements

Flitting from one part of the body to another

Cease during sleep

27
Q

What is hemiballismus?

A

Violent swinging movements of one side of the body

28
Q

What is myoclonus?

A

Sudden, involuntary jerking of a single muscle or group of muscles

29
Q

Give an example of a common type of myoclonus?

A

Benign essential myoclonus

The sudden jerking of a limb or the whole body on falling asleep

30
Q

What are tics?

A

Brief, repeated movements involving the face and shoulders usually

31
Q

What is dystonia?

A

Prolonged spasms of muscle contraction

Occur focally, for example in the neck, they can cause the head to be held in an abnormal posture

32
Q

What is the inheritance pattern of Huntington’s disease?

A

Autosomal dominant

If one parent has the disease, the child has a 50% chance of getting it

33
Q

What is Huntington’s disease?

A

An inherited progressive, degenerative disorder of the nervous system

34
Q

What is the usual age of onset of Huntington’s?

A

About age 40, but it can be earlier

Can even be below age 20: juvenile HD

35
Q

What determines the age of onset of Huntington’s?

A

The number of CAG repeats, the more = the earlier the onset

36
Q

What is the pathogenesis of Huntington’s?

A

A defect in the Huntingtin gene found on chromosome 4

In normal people, this gene contains a repeat sequence of CAG

If there are too many repeats you get Huntington’s

The defective protein produced by Huntingtin gene causes increased neuronal damage

Loss of GABA and ACh neurons causing atrophy of caudate nucleus + corpus striatum in basal ganglia

37
Q

What does ‘anticipation’ mean, in terms of Huntington’s disease?

A

The CAG repeat can lengthen with subsequent generations

The longer the repeat, the earlier and more severe the disease is

38
Q

Which gene is affected in Huntington’s and where is it found in the genome?

A

Huntingtin

Chromosome 4

39
Q

Clinical presentation of Huntington’s?

A 
Chorea
Agitation + anti-social behaviour
Dementia
Seizures
Death
40
Q

Management of Huntington’s?

A

No cure

Supportive: anti-psychotics can help to reduce chorea and agitation, but they don’t slow progression

Counselling is vital for patient and family, especially any children who might want to receive genetic testing

Neurology (23 decks)

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