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Neurology > Neurodegenerative Diseases > Flashcards

Neurodegenerative Diseases Flashcards

MS, MND

1
Q

What is amyotrophic lateral sclerosis (ALS)?

A

It is the most common motor neuron disease, characterised by neurodegenerative loss of both UMN and LMN, H/E sensory neurons are spared.

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2
Q

Prognosis and RF for ALS?

A
  • Most cases are sporadic, but 10% cases are familial.
  • RF = >50yrs, male, Fx, smoking, exposure to heavy metals and pesticides
  • Prognosis = 3-5y after Sx onset
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3
Q

Clinical features of ALS (4 groups of Sx)

A

There is NO sensory, autonomic, visual dysfunction!!!!!!!!!!!

(1. ) Limb onset
- LMN = weakness in upper limb (1st Sx seen), muscle wasting, reduced tone, hyporeflexia, fatigue: during exercise, clumsiness, dec manual dexterity
- UMN = Inc tone, spasticity, brisk reflexes, hyperreflexia

(2. ) Bulbar Sx: dysarthria, dysphagia
(3. ) Resp Sx: resp failure is common cause of death
(4. ) Cognitive Sx: frontotemporal dementia

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4
Q

Ix of ALS (3)

A

Dx = based on clinical presentations h/e Ix can help rule out other diseases

(1. ) EMG + Nerve Conduction Studies
- identify fasciculations
- motor conduction can be normal or reflect denervated muscles.
- Sensory conduction is normal.
(2. ) Genetic Testing: two most commonly identified mutations are C9orf72 and SOD1.

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5
Q

Mx of ALS (3)

A

There is no tx for halting or reversing the progression of the disease

(1. ) MDT
- Physiotherapists, speech, occupational therapists
- Dieticians: Percutaneous feeding may improve QoL and improve survival
- End-of life planning

(2. ) Glutamate release antagonist, Riluzole
(3. ) Non-invasive ventilation: Used at home to support breathing at night improves survival and QoL

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6
Q

Features of LMN lesions (4)

A
  • Muscle tone reduced (flaccid)
  • Muscle wasting
  • Fasciculation
  • Hyporeflexia
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7
Q

Feature of UMN lesions (4.)

A

(1. ) Inc muscle tone (spasticity)
(2. ) hypereflexia + brisk
(3. ) Plantar reflex demonstrate toe dorsiflexion (+ve Babinski sign) [indicate CNS damage]
(4. ) Characteristic pattern of limb muscle weakness:
- extensor weaker than flexors in upper limb
- flexors weaker than extensors in lower limb think of babinski sign

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8
Q

List 3 causes of UMN lesions

A
  • Compression of brain or SC by tumour
  • Degenerative Spinal disease (spondylosis)
  • Neurodegenerative diseases e.g. MND + Multiple sclerosis
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9
Q

Where can LMN lesions occur? (5)

A

(1. ) lower motor neuron
(2. ) spinal root
(3. ) peripheral nerve
(4. ) NMJ
(5. ) muscle

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10
Q

What is multiple sclerosis?

A

(1. ) Inflammatory demyelinating disease specific to CNS.
(2. ) This inflammation results in formation of scar tissues on neurons which results in impaired signal transduction
(3. ) Symptoms felt by patients is due to affected sensory and motor neurons

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11
Q

Aetiology and RF of Multiple Sclerosis

A

(1. ) Cause is unknown
(2. ) Commonest cause of chronic neurological disability in young adults
(3. ) RF: Female, 20-40y, Northern European, EBV
(4. ) Genetics: HLA gene, Fx (15% chance), 30% concordance in twin studies, mutations
(5. ) Environmental: Prevalence is low near the equator (migration studies), correlation with sun exposure and vitamin D

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12
Q

types of multiple sclerosis

A
  1. Relapsing/remitting MS (RRMS) [85%]
    - Relapses with full or partial recovery
  2. Primary progressive MS (PPMS)
    - Disease progression from onset
  3. Secondary progressive MS (SPMS)
    - Initially RRMS followed by progression
    - Typically no relapses
  4. Relapse/Progress MS
    - Progressive disease from onset with acute relapses
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13
Q

Pathophysiology of multiple sclerosis

A

NOTE: There are 4 classifications for MS pathophysiology, macrophage and ab mediated are the most common.

(1. ) Entry of T-cells across the BBB –> releases cytokines –> initiate destruction of oligodendrocyte-myelin by macrophages
(2. ) Most commonly in periventricular regions of the brain, brainstem, optic nerve, SC. This affects white matter (myelinated SC tracts etc) but can also affect grey matter
(3. ) Gliosis follows after attack leaving ‘shrunken scars’ so demyelination heals poorly, eventually causing axonal loss.
(4. ) Transmission is disrupted and forced to propagate along the axon
(5. ) Remyelinated axons becomes temperature sensitive [worsening of Sx] i.e. hot showers will cause numbness, tingling, ‘Uhthoff’s phenomen’

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14
Q

Clinical features of MS (10.)

A

Plaque distribution: Cerebral, SC, Optic nerve, Brainstem, Cerebellar WM
NOTE: pt may describe it getting better and going away and then coming back

Visual Sx

(1. ) Unilateral OPTIC NEURITIS
(2. ) Nystagmus
(3. ) Double vision

Sensory Sx

(3. ) Parasthesia + Dysesthesias (abnormal sensation)
(4. ) Trigeminal neuralgia

Motor Sx

(5. ) Weakness or Spasticity or UMN lesions
(6. ) Dysarthria

Sexual/GU Sx

(7. ) Bladder Sx: Urgency, frequency, incontinence
(8. ) Erectile dysfunction

Cognitive Sx
(9.) Memory loss + Intellectual impairment (late stage, frontal lobe affected)

(10.) Sx may worsen with heat

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15
Q

Dx of MS

A
  • Two separate attacks or CNS lesions disseminated in time and space
  • Exclusion of conditions giving a similar clinical picture
  • Dx requires: Sx, neurological ex, MRI, CSF studies, Evoked potential
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16
Q

Ex and Ix of MS (4)

A

(1. ) Neurological Ex
- look for abnormalities, changes, weakness in vision, eye movements, hand or leg strength, balance, co-ordination, speech and reflexes.

(2. ) MRI
- Important to rule out other causes
- Characteristic lesions located in: periventricular, juxtacortical, brainstem, cerebellum, SC, optic nerve
- MRI + contrast = active or chronic inflammation

(3. ) LP + CSF
- IgG Oligoclonal banding present in CSF but not in serum indicates CNS inflammation

(4. ) Evoke potentials (EP)
- Stimulation of optic nerve + calculate it’s speed to brain
- Conduction should be quick but in inflammation (i.e. MS) there will be a DELAY and this will be picked up in this test

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17
Q

Mx of MS

A

(1.) Mx of disability: MDT, physiotherapy, occupation therapy, speech therapist, aid at home

(2. ) Tx of Acute episodes:
(a. ) High dose glucocorticoids: PO, IV methylprednisolone
(b. ) Plasma exchange for short-term severe attacks
- If steroids are CI or ineffective

(3. ) Prevention of relapses
- Disease modifying therapies (DMT): alemtuzumab, natalizumab, beta-interferons, glatiramer
- Do not use in primary or secondary progressive MS

(4. ) Mx of complications
(a. ) Bladder dysfunction: Intermittent catheterisation
(b. ) Erectile dysfunction: sildenafil
(c. ) Spasticity: baclofen, gabapentine, diazepam, botulinum toxin etc
(d. ) Fatigue: amantadine
(e. ) Paroxysmal, acute pain: anticonvulsants e.g. carbamazepine

18
Q

Name four movement disorders

A

Essential Tremor
Parkinson’s Disease
Huntington’s disorder
Dystonia

19
Q

What is Parkinson’s?

A

(1. ) Age-related disorder
(2. ) Depletion of DA-neurons in substantia nigra
(3. ) Presence of Lewy bodies in sub.nigra, basal ganglia, brainstem, cortex.
(4. ) These increase with disease progression

20
Q

Aetiology and RF of Parkinson’s

A

(1. ) Idiopathic
(2. ) Inherited factors: Parkinson’s genes, Susceptibility genes
(3. ) Environmental factors: RF, Toxin induced: manganese dust, carbon disulphide, severe carbon monoxide poisoning
(4. ) Mitochondrial dysfunction
(5. ) Oxidative stress

(6.) RF = Age 60y, Fx, men

21
Q

Clinical features of Parkinson’s (4 Motor, 8 non-motor)

A 
Motor Sx
(1.) Bradykinesia: slowness and absent of movement e.g. problems with doing buttons, smaller writing

(2. ) Rigidity (increased tone) causes stiffness + pain
(3. ) Tremor: unilateral at rest
(4. ) Gait and imbalance: shuffling steps, difficulty turning around and difficulty stopping

Non-motor Sx

(1. ) Hyposmia (reduced sense of smell)
(2. ) Anxiety/depression, psychosis
(3. ) Reduced QoL
(4. ) GU/sexual problems: constipation, sphincter disturbance, erectile failure, loss of libido
(5. ) Fatigue
(6. ) Dysphagia, dysarthria
(7. ) Weight loss
(8. ) Cognitive impairment including dementia
- Cognitions is spared in early disease if is present consider alternative diagnosis such as dementia with Lewy bodies

22
Q

Three Cardinal Sx of Parkinson’s

A

Bradykinesia, rigidity, tremor

23
Q

Ix and Ex of Parkinson’s (4)

A

O/E

(1. ) Testing for bradykinesia
- Repeated movement e.g. finger tapping 10 times
- perform these big + fast
- PD: dec in rhythm + amplitude over time in hand movement the longer the pt does it

(2. ) Testing rigidity
- Look for resistant to movement (PD: inc tone + ‘lead pipe’ rigidity)

(3. ) Testing for tremor
- Look for rest + postural tremor

(4.) DaTSCAN shows reduced DA activity

24
Q

Tx and Mx of Parkinsons

A

Initiate when sx are impacting everyday life, if tremor/PD not bothering pt don’t need to treat or change medication

(1. ) L-Dopa
(2. ) DA agonists
(3. ) COMT/MAO-Bi: Rasagiline, Selegiline

(4. ) Occupational, Speech, physiotherapy
(5. ) Mx of ANS, psychiatric, depression etc

25
Q

(4) Complications of Parkinson’s Tx

A

Dyskinesia = involuntary movements

(1. ) Wearing off
(2. ) On-dyskinesias = involuntary, erratic, movements when starting drug
(3. ) Off- dyskinesias = medication is wearing off, painful dystonic movement
(4. ) Freezing = unpredictable loss of mobility

26
Q

What is L-dopa

A

(1. ) It is a precursor for Dopamine
(2. ) Most effective, best tolerated and cheapest drug
(3. ) The higher the dose, the greater the risk of SE
(4. ) 3 different preparations may be used:
- ‘Kick-start’ morning dose
- Standard release, day time medication
- Slow-release, night time

27
Q

What is Dopamine agonists

A

(1. ) Like DA, it can bind to DA-R on postsynaptic mb
(2. ) Reduces risk of dyskinesia in short-medium term
(3. ) 1st line drug in tx of younger pts <60y
(4. ) SE: tiredness, gambling, hypersexuality etc

28
Q

What is an Essential tremor and RF?

A
  • Most common cause of movement disorders
  • Cause is unknown h/e there is genetic and environmental involvement
  • Strong inheritance link!
  • RF = increasing age, Fx, toxin exposure
  • Complications: change jobs or retire early because of associated disability
29
Q

Clinical features of Essential Tremor

A

Bilateral arm tremor

  • Rarely at rest usually on movement/performing activities (unlike PD)
  • Improves with alcohol (in 15%)
30
Q

Ex of Essential Tremor

A

Look for the following:

  • Postural/action tremor
  • No/little rest tremor
  • No inc tone
  • No problems with finger movement
  • No other neurological signs or deficits
31
Q

Mx of Essential Tremor (4.)

A

(1. ) Reassure Pts
- Reassure ET is not associated with any serious underlying condition

(2. ) Propranolol (bblocker) or Primidone [1st line]
- Bblocker CI in asthma, diabetes
- Primdone start at low dose

(3.) Gabapentin, clonazepam [2nd line]

(4. ) Surgical/Referral
- Deep brain Stimulation if Sx are refractory

32
Q

What is Alzheimer’s Disease

A
  • Most common cause of dementia but not all dementia is due to AD
  • Progressive neurodegenerative disorder that causes significant deterioration in mental performance.
  • This leads to impairment in normal social and occupational function including memory loss, problem-solving or language.
  • It has a gradual onset and is progressive
  • Prevalence increases with age
33
Q

Aetiology and (8) RF of Alzheimer’s Disease

A

Aetiology

  • Exact cause is unknown
  • Environmental and genetic risk factors that increase the chance of developing pathological processes

RF:

  • Age
  • Most cases are sporadic
  • Inherited: APP, PSEN1, PSEN2 mutations
  • CVD
  • Depression or loneliness
  • Low education attainment
  • Low social engagement and support
  • Others: trauma, learning difficulties
  • down syndrome
34
Q

Pathophysiology of Alzheimer’s Disease

A

(1. ) The two key pathological changes:
(a. ) Senile plaques (SP): deposits of beta-amyloid outside of neurons. NOTE: Aβ aggregates into plaques in brain so this lowers amount in CSF -> dec Aβ CSF conc.
(b. ) Neurofibrillary tangles (NFT): aggregations of hyperphosphorylated tau proteins inside neurons, occurs in areas involved in memory.

(2. ) SP and NFT result in neuronal cell death + memory failure, personality changes and problems with activities of daily living (hallmarks of dementia).
(3. ) NOTE: although these features are characteristic of AD, it is not specific as it can be seen in other neurodegenerative conditions. SP is also seen in normal ageing.

35
Q

Braak Staging of AD

A
  • It is based on amount of pathological changes (tau and amyloid) and the topographic location within the brain
  • Locations: Usually starts in hippocampus -> limbic system/medial temporal lobes -> temporal neocortex -> frontal + parietal + rest of cortex (severe)
36
Q

Clinical features of AD

A

Insidious onset + non-specific Sx

(1. ) Cognitive impairment = poor memory, language problems, disorientation etc
(2. ) Behavioural + psychological Sx = agitation, depression, anxiety, sleep disturbance, social + emotional withdrawal

(3. ) Disease-specific features
- Early AD: short-term memory loss + difficulty learning new info.

(4. ) Daily living activities
- Loss of independence
- Early: problems with higher level function (e.g. managing finances, difficulties at work)
- Later: problems with basic personal care and motor function

37
Q

What is Mild cognitive impairment

A

Mild cognitive impairment with clinical diagnostic criteria as follows:

  • Concern regarding a change in cognition
  • Impairment of one or more cognitive domains.
  • No functional impairment
  • Not having the features of dementia

Mild cognitive impairment helps identify patients at risk of progression to dementia.
- Patients should have regular follow-up and be advised to undertake healthy brain activities (e.g. exercise, socialising).

38
Q

Examinations and Investigations of dementia

A

(1. ) Cognitive assessment tools e.g. MMSE, MoCA
- Assess severity based on level of functional inability

(2.) Other tests to consider: ECG, Virology, Syphilis testing, CXR

(3. ) MRI
- Important to exclude other dx (e.g. brain tumour) and can be used to help characterise type of dementia (e.g. small vessel disease in VD).
- Generalised atrophy

39
Q

Dx of AD

A

Diagnostic criteria for dementia based on DSM-V.

(1. ) Functional ability: inability to carry out normal functions. Represents a decline from previous functional level
(2. ) Cognitive domains: impairment involving ≥2 cognitive domains
(3. ) Differentials excluded: clinical features cannot be explained by another cause (esp. psychiatric disorders and delirium)

40
Q

Mx of AD

A
  1. Refer to specialist memory clinic when alzheimers is suspected based on symptoms/MMSE scores
  2. Non pharmacology (CBT, memory aids, dance/music therapy)
  3. Pharmacological therapy
    a. acetylcholinesterase inhibitors = mild/moderate dementia
    b. Memantine = moderate-severe
  4. IM lorazepam/haloperidol can be used for agitation/violence/aggression. Avoid IM diazepam
  5. Consider antidepressants

Neurology (22 decks)

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