neurodegenerative diseases Flashcards by Evie Mander

what is multiple sclerosis

inflammatory demyelinating disorder of the CNS

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who usually presents with MS

females aged 20-50

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name some environmental factors associated with MS

viral infections e.g. EBV and vitamin D deficiency
smoking, latitude, diet and obesity in early life

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pathophysiology of MS

autoimmune disease that causes accumulation of plaques of demyelination in the white matter of the CNS
+ gliosis (scarring)

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what is the most common first presentation of MS

optic neuritis

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clinical presentation of optic neuritis

unilateral decrease in visual acuity, poor discrimination of colours, pain worse on eye movement, RAPD, central scotoma

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fundoscopy of optic neuritis

pale, swollen disc

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what are the 3 main patterns of disease in MS

relapsing remitting
secondary progressive
primary progressive

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what is the most common pattern of disease in MS

relapsing remitting

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relapsing remitting MS

episodes or exacerbations of symptoms followed by periods of recovery

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secondary progressive MS

RR patients who have deteriorated and develop signs and symptoms between relapses

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primary progressive MS

steady progression and worsening of the disease from the onset (without remissions)

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how is a relapse of MS defined

onset of new symptoms or worsening of existing ones, lasting longer than 24hrs in the absence of infection or any other cause, after a stable period of at least a month

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what is a common complication of progressive MS and why

urinary frequency, urgency and incontinence
due to neurogenic detrusor overactivty

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clinical presentation of MS

paraesthesia, weakness, balance and mobility issues, fatigue, stiffness or spasms

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investigations for MS

CSF, MRI, bloods

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CSF positive finding of MS

oligoclonal bands of IgG

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MRI positive finding of MS

periventricular white matter lesions

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acute management of MS

glucocorticoids -> methylprednisolone

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what does NMOSD stand for

neuromyelitis optica spectrum disorder

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what is NMOSD

inflammatory disease of the CNS that causes demyelination of the optic nerve and spinal cord

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who usually presents with NMOSD

females, mid 30s

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what can NMOSD often be mistaken for

multiple sclerosis

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how can we differentiate between MS and NMOSD

presence of aquaporin 4 antibodies

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acute management of NMOSD

high dose steroids (plasma exchange if needed)

chronic management of NMOSD

immunosuppression with steroid-sparing agents e.g. azathioprine

who is more likely to develop MND

males (slightly!)

what is the most common type of MND in adults

amyotrophic lateral sclerosis

what is the average survival time for a patient diagnosed with MND

3 years

what is often associated with MND

frontotemporal dementia

what is the main cause of death in patients with MND

weakness of respiratory muscles

where is predominantly affected by MND

upper and lower motor neurones in the spinal cord, cranial nerve motor nuclei and cortex

name some upper motor neuron signs

increased tone, hyper-reflexia, spastic gate, slowed movements

name some lower motor neuron signs

muscle wasting, weakness, FASCICULATIONS, absent or reduced deep tendon reflexes

what sign is associated with greater functional decline in MND

catabolism (hypermetabolism)

what are the 4 main types of MND

spinal ALS bulbar ALS progressive muscular atrophy primary lateral sclerosis

what is split hand syndrome

preferential wasting of the thenar group (guttering) typically seen in ALS

clinical presentation of spinal ALS

upper and lower motor neuron symptoms e.g. spasticity, hyperreflexia, fasciculations, muscle atrophy usually in one limb

who presents with bulbar ALS

men aged 60-80

clinical presentation of bulbar ALS

early tongue and bulbar involvement dysarthria, dysphagia, nasal regurgitation of fluids and choking

clinical presentation of progressive muscular atrophy

ONLY LOWER MOTOR NEURONE FEATURES weakness, muscle wasting, fasciculations

clinical presentation of primary lateral sclerosis

ONLY UPPER MOTOR NEURONE FEATURES

management of MND

supportive - MDT, pain relief, SLT involvement

disease-modifying treatment in MND and what it does

riluzole - extends life expectancy by around 3 months

what is Creutzfeldt-Jakob disease

a neurodegenerative disorder caused by prion proteins

what are prions

misfolded proteins that induce normal proteins within the brain to misfold and aggregate, leading to neuronal loss

genetics involved with Creutzfeldt-Jakob disease

PRNP gene mutation

clinical presentation of Creutzfeldt-Jakob disease

rapidly progressive dementia, sleep disturbances, aphasia, apraxia, tremor, dystonia

how do we confirm suspected Creutzfeldt-Jakob disease and when is investigation indicated

brain tissue biopsy only indicated if there is a reversible condition suspected in the differential

management of Creutzfeldt-Jakob disease

symptom control and palliative care

what is the most common type of dementia

alzheimers

what are the 4 main types of dementia

alzheimers frontal lobe lewy body vascular

name some secondary causes of dementia

brain infection, haematoma, normal pressure hydrocephalus, alcohol dementia, deficiencies

clinical presentation of normal pressure hydrocephalus

triad of gait disturbance, dementia and urinary incontinence

normal pressure hydrocephalus on imaging

ventricular enlargement

what causes alzheimers disease

build up of amyloid protein deposits around brain cells and tau protein tangles within brain cells

which type of dementia is liked to down syndrome

alzheimers

what is vascular dementia

brain damage due to cerebrovascular disease

how will vascular dementia present

usually later onset presence of CVD + a clear temporal relationship between the onset of dementia and CVD

what causes lewy body dementia

deposition of abnormal protein (a-synuclein) with neurons in the brainstem and neocortex

what is the key area of the brain affected in lewy body dementia

substantia nigra

inheritance seen in huntingtons

autosomal dominant

name some secondary causes of dementia (with the mnemonic)

VITAMINS vascular infection trauma alcohol and drugs metabolic (thyroid) intracranial SOLs nutritional deficiencies SOLs

which genetic phenomena does huntingtons demonstrate and what is it

anticipation - each generation develops a genetic disease at an earlier age

clinical presentation of alzheimers

gradual onset, decline of short-term memory autobiographical memory usually preserved poor concentration, sleep and low mood

clinical presentation of vascular dementia

step-wise deterioration, dysphasia, dyscalculia

how does fronto-temporal dementia present

cognitive impairment, personality change, disinhibition

which type of dementia is associated with constructional apraxia

fronto-temporal dementia

how does dementia with lewy bodies present

visual hallucinations, fluctuating cognition, REM sleep behaviour disorder

which cognitive assessment is used for suspected dementia

addenbrooks

what can be a good tool for differentiating between alzheimers and vascular dementia

hachinski ischaemic score

what is huntington's disease

genetic disorder that causes progressive breakdown of nerve cells in the brain

which area of the brain is most commonly degenerated in huntington's disease

basal ganglia

what is the classic triad patients with huntington's present with

choreoathetosis, dementia and psychiatric abnormalities e.g. depression

what is choreoathetosis

unpredictable, flowing and writhing movements

management of the symptoms of huntington's

chorea: tetrabenazine depression: SSRIs

standard imaging for suspected dementia

management of severe alzheimers

memantine

mechanism of action of memantine

NMDA receptor blocker

name some other drugs used to manage alzheimers and their mechanism of action

cholinesterase inhibitors donepezil, rivastigmine, galantamine

management of vascular dementia

manage risk factors +/- cholinesterase inhibitors