Movement Disorders Flashcards

(30 cards)

1
Q

What are the 5 most common diseases in neurology?

A
Migraine
Stroke
Epilepsy
Dementia
Parkinson’s disease
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2
Q

What are quality-adjusted life years (QALY)?

A

1 QALY is one year lived in perfect health

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3
Q

What are disability-adjusted life years (DALY)?

A

1 DALY is one year lost due to ill-health

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4
Q

What is motor neurone disease?

A

Amyotrophic lateral sclerosis (ALS) - degeneration of UMNs and LMNs. Muscular atrophy, facial paralysis, progressive

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5
Q

What is multiple sclerosis (MS)?

A

Autoimmune disease that attacks myelin and causes symptoms of UMN and LMN syndromes

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6
Q

What is stroke?

A

Acute onset of neurological defects due to disturbance in blood supply to brain.

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7
Q

What are the symptoms of stroke?

A
FAST:
Facial weakness
Arm weakness
Speech difficulty 
Time to call 999
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8
Q

What are the 2 different types of stroke?

A

Haemorrhagic (15%)

Ischemic (85%)

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9
Q

What is a lacunar infarction?

A

Occlusion of small penetrating arteries that supply deep brain structures

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10
Q

What is the most common type of stroke?

A

Middle cerebral artery territorial infarction - contralateral hemiplegia and hemisensory loss

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11
Q

How would you diagnose a stroke?

A

Neurological assessment followed by neuroimaging (CT to detect haemorrhage)

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12
Q

How would you treat a haemorrhage stroke?

A

Pain management and surgery to repair origin of bleed

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13
Q

How would you treat an ischemic stroke?

A

Thrombolysis with Alteplase within 3hrs. Thrombectomy with retriever devices within 6hrs

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14
Q

What is penumbra regarding a stroke?

A

Potentially salvageable tissue

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15
Q

What blood flow defines cells as irreversibly damaged?

A

<12mL/100g/min

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16
Q

What is the sequence of events after stroke to cell death?

A
Failure of ion pumps, depolarisation and swelling
Excessive glutamate release
Peri-infarct depolarisations
Inflammatory invasion
Apoptosis
17
Q

What is Parkinson’s Disease? What is the cause?

A

Neurodegeneration of the extrapyramidal system. Dopamine loss interferes with nigrostriatal pathway leading to inability to perform normal motor function

18
Q

What are triplet repeats?

A

Triplet repetitiveness in genome that have varied lengths

19
Q

What is the consequence of longer triplet repeats?

A

Neuromuscular and neurodegenerative disorders. Longer repeats = more severe disease

20
Q

What is Huntingdon disease?

A

Progressive neurodegenerative disorder causing motor dysfunction (affects striatum and rest of brain).

21
Q

What is the cause of Huntingdon disease?

A

Expansion of a CAG trinucleotide repeat in exon 1 of the huntingtin (HTT) gene. Expansion leads to longer huntingtin protein being translated which is cut into toxic fragments that accumulate in neurons.

22
Q

When does Huntingdon disease present?

A

First symptoms ~35-50 years of age (~5-10% before 20 years)

23
Q

What is Myotonic Dystrophy type 1?

A

Expansion of a CTG trinucleotide repeat in the 3’UTR of DMPK gene. Repeats transcribed into mRNA and accumulate in nucleus, trapping essential cellular RNA-binding proteins

24
Q

What is Fragile X syndrome?

A

Expansion of CHG trinucleotide repeat in 5’UTR of FMR1 gene on X chromosome. Large DNA expansion hypermethylated and FMR1 expression silenced, reducing FMR1 protein

25
From which parent is Huntingdon disease transmitted?
Father - expansion occurs in spermatocyte
26
From which parent is Myotonic dystrophy type 1 transmitted?
Mother - expansion occurs in oocyte
27
What is the concern with a triplet repeat disorder and passing down to further generations?
Repeat sequence can expand and produce a more sever phenotype (anticipation)
28
How do we identify triplet repeat expansions in Huntingdons?
PCR using two primer pairs that flank CAG repeat region to view length of repeat: HD1 + HD3 HD2 + HD5
29
What are the clinical features of Huntingdon disease?
Movement disorder Psychiatric disturbances Cognitive decline
30
What length of the CAG repeat would be normal?
<26