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Neurology > Neurodegenerative disorders [12/10/20] > Flashcards

Neurodegenerative disorders [12/10/20] Flashcards

1
Q

Define motor neuron disease

A

a group of rare neurodegenerative disorders that selectively affect motor neurones

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2
Q

Aetiology of MND

A

Sporadic [unknown], familial [SOD1, C9ORF72]

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3
Q

Simple pathophysiology of MND

A

Selective loss of neurones in motor cortex, cranial nerve nuclei and anterior horn cell [grey matter]

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4
Q

Most common aetiology of MND

A

Sporadic MND

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5
Q

Name the 4 MND types

A
  • Amylotrophic lateral sclerosis
  • primary lateral sclerosis
  • progressive muscular atrophy
  • progressive bulbar palsy
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6
Q

Define ALS

A

Most common type [50%], typically both LMN and UMN signs. Worse prognosis if bulbar onset.

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7
Q

Define PLS

A

LMN signs only, affects distal muscles before proximal, carries best prognosis

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8
Q

Define PMA

A

LMN signs only, affects distal muscles before proximal, carries best prognosis

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9
Q

Define PBP

A

affects CN IX-XII, palsy of the tongue, muscles of chewing/swallowing and facial muscles due to loss of function of brainstem motor nuclei and carries worst prognosis. Can’t swallow so become malnourished.

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10
Q

Most common progression MND

A

Peripheral weakness present, then bulbar Sx after. If bulbar Sx early on, then usually worse prognosis.

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11
Q

Sx of MND

A

weakness, bulbar Sx [dysarthria, dysphagia, sialorrhoea]

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12
Q

Signs of MND

A

Asymmetric pattern of weakness. [hot bath?]. ALS = UMN and LMN signs.

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13
Q

Ix for MND

A

no Dx test, neurophysiology/EMG may detect denervation. MRI helps to exclude structural causes. LP helps exclude inflammatory causes.

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14
Q

Mx for MND

A

Riluzole, NIV, gastronomy.

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15
Q

Prognosis for MND

A

1 to 5 years, but with broad range

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16
Q

Epidemiology

A

M > W [3:2]

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17
Q

Dysarthria, dysphagia and siarlorrhoea shta type of Sx?

A

Bulbar

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18
Q

Define PD

A

Progressive, neurodegenerative disease that causes characteristic motor Sx of tremor, bradykinesia and postural instability

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19
Q

PP of PD

A

Degeneration of dopaminergic neurones in the substantiated nigra pars compacta.
Associated with Lewy bodes [tangles of alpha-synuclein and ubiquitin].
Decreased striatal dopamine levels.

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20
Q

Sx of PD

A

Tremor, slowness of movement, problems with walking [as the disease worsens, non-motor Sx become more common like neuropsychiatric complications]

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21
Q

Signs of PD

A

4Hz slow resting “pill-rolling” tremor, bradykinesia, rigidity [“cogwheel rigidity”], postural and gait disturbances [festinance, feeling, reduced arm swing], expressionless face [hypomimesis], micrographic. lateral tremor usually worse on one side. slow tremor.

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22
Q

what is bradykinesia?

A

Slowness of movement

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23
Q

Ix for PD

A

Usually clinical Dx, MRi and CT [tpyically normal], metabolic activity of dopamine transporters in basal ganglia can be measured with Pet and SPECT scans [also DaTSCAN]

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24
Q

Mx for PD

A

Levodopa, dopamine receptor agonists [e.g. ropinirole and pramipexole], MAO-B inhibits [e.g. rasagiline, selegiline], amantadine, COMT inhibitors [e.g. entacapon, tolcapone], antimuscarinics [e.g. benzhexol, orphenadrine]

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25
Q

What are MRI/CT/Pet and SPECT scans looking for?

A

Dopamine!

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26
Q

What are the 4 common drugs given to those with PD?

A
  • Levodopa
  • Dopamine agonists [ropinirole and pramidprexole]
  • MAO-B inhibitors [selegiline, rasagiline]
  • COMT inhibitors [etacapone[, tolacapone
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27
Q

Explain how L-dopa works

A

Look at diagram

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28
Q

What should L-dopa be combined with? And why?

A

Dopa-decarboxylase inhibitor [co-beneldopa or co-careldopa]. Prevent SE.

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29
Q

Why should dopamine agonists by trialled?

A

Can delay starting L-dopa in early stages of PD

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30
Q

Define Huntington’s disease

A

An inherited neurodegenerative disease characterised by chorea, dystonia, incoordination, cognitive decline, and behavioural diffuculties

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31
Q

Aetiology of HD

A

Autosomal dominant [complete penetrance], gene on chromsome 4 encodes protein called huntingtin

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32
Q

What is the mutant Huntingtin?

A

CAG trinucleotide repeat expansion, which accumulates in the brain cells causing damage. Toxic ‘gain of function’ mutation.

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33
Q

What is chorea?

A

Chorea is involuntary movement

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34
Q

What is dystonia?

A

Tensed muscle

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35
Q

how many faulty gene repeats do you need for HD?

A

over 35 CAG repeats

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36
Q

What does complete penetrance mean?

A

patient have mutation, then likely to present with the disease

37
Q

Sx of HD?

A

Early stages, subtle changes in personality, cognition and physical skills. Uncontrollable movements [chorea].

38
Q

Signs of HD

A

Chorea, impaired psychomotor functions, rigidity, dystonia, loss of saccadic eye movements, behavioural problems, dementia, difficulties, chewing, swallowing and speaking, sleep disturbances

39
Q

Ix for HD

A

Genetic testing/DNA analysis, CT/MRI can show atrophy of the caudate nuclei [although the are not Dx of HD]

40
Q

Mx of HD

A

no disease modifying Tx at present. Tx are available for treating Sx

41
Q

Epidemiology of HD

A

5/100k about

42
Q

prognosis usually of HD

A

survive 15-20 years, but low QoL

43
Q

Define dementia

A

syndrome in which there is deterioration in memory, thinking, behaviour and the ability to perform everyday activities

44
Q

Types of dementia

A

Alzheimer’s [most common at 50%], vascular dementia [25%], dementia with levy bodes [15%], frontotemporal dementia [less than 5%], mixed dementia, PD + genetic causes of dementia [AD Alzhemier’s]

45
Q

Types and prevalence of potentially treatable dementias

A

less than 5%

Substance misuse, hypothyroidism, SOL, NPH, syphilis, vitamin B12 deficiency, folate deficiency, peliagria

46
Q

Dx of dementia

A

comprehensive history and physical examination, a formal screen for cognitive impairment such as MMSE

47
Q

Ix for dementia

A

dementia screen, requirement to exclude other causes of confusion/memory impairment: FBC, LFT, U&E, ESR or CRP, B12, TFT, syphilis serology, cortisol, glucose, calcium, CT brain, EEG, LP [e.g. to identify CJD]

48
Q

Pharmacological Mx

A
  • acetylholinesterase inhibitors [e.g. donepezil] for mild to moderate Alzheimer’s
  • N-methyl-D-asparate antagonists [NMDA antagonists - memantine] is a second-line option where AChE inhibitors are not tolerated or CI
49
Q 
Case 1 [look up]:
- weakness climbing stairs
- fasciculations
- brisk knee and ankle reflexes
- positive hoffman's and babinski
sensory and cranial nerves in tact
A

MND
- upper [babinski, upping plantars], lower [fasciculations] motor neurone signs
- MND presents with UMn and LMN lesions with NO sensory involvement
bulbar signs, such as tongue wasting and fasciculations often help Dx

50
Q 
Case 2 [look up]:
- 69 y/o M
- not been self, withdrawn, forgetful
word finding problems
- naked and urinating in room last week
- history HTN and ex-smoker
A

Frontotemporal dementia

  • developed change in behaviour
  • initially negative Sx like withdrawn and disinterest in hobbies [as opposed to positive signs like hallucinations]
  • would be depression if not for word finding difficulties and disinhibition
  • no extra-pyramidal signs for LBD
  • Alzheimer’s tends to effect language and memory before personality
51
Q 
Case 3:
- 67 y/o M
- sustained falls, shuffle around the house
- up and down stairs
- appears confused at times, forgetful names
- move and follow commands slowly 
- resting tremor L hand
- some rigidity also noted
examination CN unremarkable
A

PD

  • asymmetric tremor
  • Cn normal
52
Q

Case 4

  • 76 y/o M
  • increasing frequency falls
  • pill-rolling tremor both hands, bilateral cog-wheeling
  • CN normal except for upwards gaze
  • speech distinct and nasal in character
A

progressive supranuclear palsy [PSP]

  • Parkinson’s-plus syndrome
  • bilateral, symmetrical Sx are uncommon in PD, particularly early on
  • eye signs v unusual
  • PSP patient with increasing falls near the stairs due to an impaired vertical gaze
  • nasal ‘Donald-Duck’ voice secondary to pseudo bulbar palsy
  • idiopathic PD don’t get CN problems
53
Q

What is PSP also known as?

A

Steel-Richardson-olszewski syndrome

- a ‘Parkinson Plus’ syndrome

54
Q

Features of PSP

A
  • impairment of vertical gaze [down gaze worse than up gaze- pts may complain of difficulty reading or descending stairs], parkinsonism, falls, slurring speech, cognitive impairment
55
Q

Mx of PSP

A

Poor response to L-dopa

56
Q 
Case 5
- 72 y/o woman
- becomes confused at the end of a charity walk
- asks why got here, no PMH
- normal Bp and HR
- neuro signs normal
- gradually recovers over 3 hours
Treatment given?
A

Reassurance

  • acute onset retrograde amnesia with preserved orientation and consciousness
  • transient global amnesia [TGA]
  • course of TGA unknown, though aetiology may be similar to migraines
  • no evidence TGA and increased risk strokes [so aspirin and clopidogrel not indicated]
  • Rivaroxaban and warfarin anticoagulants so not indicated as no AF
57
Q

Presentation of TGA

A
  • transient loss of memory funciton
  • patient anxious and repeatedly ask same question
  • patients no recall events after attack
58
Q

Aetiology of TGA

A

not known, thought to be transient ischaemia to the thalamus [in part. the amygdala and hippocmampus]

59
Q

Case 6

  • 44 y/o W
  • 3m history of worsening involuntary movements of the head
  • worse with stress, better with alcohol
  • not present when asleep
  • no other neurological Sx
  • neurological examination unremarkable [other than spontaneous movements head worse when she looks either side]
  • father similar complaint but never sought medical attention
  • most likely Dx?
A

Essential tremor
- most common cause of titubation [head tremor]
- majority pts will have hand tremor, titubation can occur in isolation
- autosomal dominant in FH
alcohol and sleep relieving factors, caffeine/stress make worse
- usually affects both upper limbs
- postural tremor: worse if arms are outstretched

60
Q

Mx for essential tremor

A
  • propanolol is first-line

- primidone is sometimes used

61
Q

Which of these Sx and Sx is NOT commonly Ass with parkinsonism?

  • postural instability
  • PEM sleep disturbance
  • hypomimia
  • broad-based gait
  • autonomic instability
A

Broad-based gait

  • Parkinsonian gate is typically narrow-based, not broad
  • PD: stopped, masked face, back rigidity, forward tilt trunk, reduced arm swing, hand tremor, fixed elbows and rwrists, hand tremor, tremor legs, slightly flexes arms and hips, shuffling and stooped gait
62
Q

Neurologisttake middle finger and flicks distal phalanx. Thumb contracts. Which reflex?

A

Hoffman’s: UMN lesion sign

63
Q

22 y/o man with ALS, most appropriate Mx?

A

Riluzole

64
Q

Benefits and drawbacks of riluzole

A

benefits
- delays onset of ventilator dependence [NIV], may increase survival by 2-3m
risks
- can cause LFT derangement; particularly hepatic enzymes

65
Q

Which of the following is least associated with the development of chorea?

  • ataxic telangiectasia
  • SLE
  • Wilson’s disease
  • pregnancy
  • infective endocarditis
A

IE
- chorea can be avery rare manifestation of IE, following embolisation to the basal ganglia. It is however the least likely of the above 5.

66
Q

Define chorea

A

Involuntary, rapid, jerky movements, which often move from one part of the body to another.

67
Q

What is athetosis?

A

Slower, sinus movement of the limbs from chorea

68
Q

Causes of chorea

A

Damage to the basal ganglia [esp. the caudate nucleus]

  • from Huntington’s disease, Wilson’s disease, ataxic telangiectasia
  • SLE, anti-phospholipid syndrome
  • RF; Sydenham’s chorea
  • drugs: OCP, L-dopa, antipsychotics
  • neuroacanthocytosis
  • pregnancy: chorea gravidarum
  • thyrotoxicosis
  • polycythaemia rubra vera
  • CO poisoning
  • cerebrovascular disease
69
Q

Which type of MND has the worst prognosis?

A

PSP

-swallowing difficulties

70
Q 
Question 6
- 76 y/o W
- increasing confusion
- wandering ward shouting at pts
- admitted high fever and 1w history productive purulent cough
- PMHx of PD
- throw objects and hit staff
- high HR
Which first line Rx?
A

Lorazepam

  • antipsychotics should be avoided in delirious pts with background PD
  • lady has delirium [combination of dark environment+infection]
  • haloperidol and other antipsychotics first-line when nursing strategies failed. but not in PD pts.
71
Q

Why haloperidol and antipsychotics not first-line Tx for PD?

A

Strong anti-dopaminergic action, will make condition significantly worse

72
Q

Why not immediate release L-dopa as an Rx for question 6?

A

Confusion this lady not due to PD. PD can cause behavioural changes, but they tend to be more chronic, progressive and less liable in nature.

73
Q

Question 7:

  • 59 y/o woman
  • Dx with PD
  • tremor and bradykinesia
  • Sx affecting his ability to work accountant and QoL
  • Tx most likely offered initially?
A

Levodopa

- newly Dx pts, who have motor Sx affecting their QoL

74
Q

Compare levodopa, dopamine agonists and MAO-B inhibitors for impact on:

  • motor Sx
  • ADLs
  • motor Cx
  • adverse events
A

[look slides]

75
Q

Question 8:

  • 45 y/o M
  • recently aggressive behaviour, depression, chorea, athetosis
  • father similar Sx at 65
  • neurodegenerative trinucleotide repeat expansion suspected. Which trinucleotide most likely?
A

CAG

- repeat expansion of CAG trinucleotide in HD

76
Q

Other important commonly tested trinucleotide repeats name:

  • GAA
  • CTG
  • CGG
A 
GAA = Friedrich ataxia
CTG = myotonic dystrophy
CGG = fragile X syndrome
77
Q

Define HD

A

inherited neurodegenerative condition. Progressive and incurable condition that typically results in death 20 years after the initial Sx develop

78
Q

What is the phenomenon of anticipation can be seen in HD?

A

The disease presents at an earlier age in successive generations [as CAG repeat expansion]

79
Q

Which neurones/brain part does HD affect?

A

GABAergic neurones in the striatum of the basal ganglia

80
Q

Which gene and where is it found causes HD?

A

Huntingtin gene defect on chromosome 4

81
Q

Features typically develop after 35 years of age

A
  • chorea
  • personality changes [e.g. irritability, apathy, depression], intellectual impairment
  • dystonia
  • saccadic eye movements
82
Q

Question 9
- 90 y/o man
- worsening confusion
- nursing home resident and dependent on carers
- struggles remembering names, naming objects
- less alert than usual
- needs prompting, remain incontinent of urine
- on examination, scores 12/15 on GCS
Which would suggest Dx of delirium rather than dementia?

A

Impairment of conscious level

- delirium involves impairment conscious level and often involves psychotic Sx

83
Q

Factors favour delirium over dementia

A
  • impairment of consciousness
  • fluctuation of Sx [worse at night, periods or normality]
    abnormal perception [e.g. illusions and hallucinations]
  • agitation and fear
  • delusions
84
Q

LBD most likely to present how?

A

Cognitive impairment, parkinsonism, visual hallucinations

85
Q

how common is LBD?

A

increasingly commonly recognised cause dementia, accounting for up to 20% of cases

86
Q

What is the characteristic pathological feature of LBD?

A

alpha-synuclein cytoplasmic inclusions [Lewy bodies] in the substantial migration, paralympic and neocortical areas

87
Q

Relationship between PD, LBD and AD

A

Complicated, dementia often seen in PD.

Also, up to 40% patients with AD have LBD.

88
Q

Features of LBD

A

Progressive cognitive impairment

  • in contrast AD, early impairments in attention and EF rather than just memory loss
  • cognition may be fluctuating, in contrast to other forms of dementia
  • usually develops before PD
  • parkinsonisms
  • visual hallucinations: other features like delusions and non-visual hallucinations may also be seen

Neurology (13 decks)

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