Lecture day 3 Flashcards
What are the common categories for neurology pathologies?
Cognition Headache Seizure and syncope Vision Hearing and balance Smell and taste Motor Sensation Sphincter
What area of the brain does Alzheimer’s disease affect most?
Hippocampal
When is the common onset for Alzheimer’s disease?
mid-70s to early-80s
What is a common misdiagnosis for young people with Alzheimer’s?
Anxiety or depression
What are common pathological hallmarks of frontotemporal lobar degeneration?
- FTLD-tau
- TDP-43
- FTLD-FUS
- Misfolded proteins may act as prion-like strains that seed network based disease spread
- Progressive change in behaviour or language
- Neurodegenerative of frontal or anterior temporal lobes
What are the different types of frontotemporal dementia?
- Behavioural variant (50%)
2. Language variant (50%): semantic or non-fluent
What are key features of behavioural frontotemporal dementia?
- Early behavioural disinhibition
- Early loss of empathy and emotional reactivity
Perseverative, stereotyped or compulsive behaviours - Hyper-orality and dietary change
What are key features of semantic dementia?
- Impaired single word and object knowledge
- Surface dyslexia
- Spared speech production and repetition
What are key features of non-fluent aphasia dementia?
- Motor speech deficit, effortful hesitant speech
- Agrammatism
- Preserved single word knowledge
- Uses nouns more than words
How does Lewy body dementia often present?
- Visual hallucinations (often animals and children)
- Parkinsonism
- Drugs for this make people worse; become delirious - Cognitive fluctuations
- If you give them antipsychotics, the Parkinsonian symptoms will get worse - Dysautonomia
- REM sleep disorders
- Neuroleptic sensitivity
How does alcohol affect neuronal function?
- Malnutrition
- Alcohol neurotoxicity
- Recurrent TBI
- Metabolic disturbances
- Seizures
How does HIV affect neuronal function?
HIV related neurocognitive disorder refers to a spectrum of disorders from asymptomatic neurocognitive impairment to HIV associated dementia
- Widespread use of HAART has resulted in a marked decrease in HIV related dementia
- All patients presenting with dementia should have an HIV test
Why do people with epilepsy have cognitive impairment?
Due to chronic epilepsy
Due to AED’s which reduce neuronal firing and slow people down
What do prion diseases lead to?
Can transform into a beta-sheet, which cannot be removed
Causes rapid dementia, which will lead to death in four months
Often mid-50s
What disease can be confused with Alzheimer’s but is curable?
Sleep apnoea
What genetic factors are involved in dementias?
- C9ORF72
- Amyloid precursor protein (Ch21q)
- Presenilin 1 (Ch14q): 50% of early-onset AD
- Progranulin (posterior AD)
What pharmacologicals can be used in AD?
Anticholinesterase inhibitors: delay the progression by a few months
Memantine
What non-pharmalogical steps can be disease-modifying?
- Cognitive stimulation activities
- Keep active and exercise
- Treat other medical conditions
- Manage anxiety, frustrations and depression
- Reduce unnecessary medication
- Support in community
What are types of focal injury?
- Vascular injury
- Axonal injury
- Contrusions
- Lacerations
What are types of diffuse injury?
- Diffuse axonal injury
2. Diffuse vascular injury
What are the categories of sleep disorders?
- Insomnias
- Hypersomnias
- Parasomnias
What are the types of insomnias?
- Sleep initiation insomnia
- Sleep maintenance insomnia
- Sleep termination insomnia
What are the types of hypersomnias?
- Narcolepsy, idiopathic hypersomnia
- CDB, PLMD
- Drugs, psychiatric illness
What are the types of parasomnias?
- Non-REM parasomnias:
- Sleeptalking
- Sleep walking
- Sleep terrors
- Bruxism
- REM parasomnias:
1. Rem sleep behavioural disorder, sleep paralysis, hypnagogic hallucinations
What is fatigue versus sleepiness?
Fatigue – “I feel exhausted after a 5 minute walk”, “If I concentrate too long I need to rest”
Sleepiness – do they actually feel like they want to sleep?
What would you use to quantify sleepiness?
Epworth score
What are causes of sleepiness?
- Obstructive sleep apnoea
- Restless les syndrome
- Behaviourally Induced Insufficient Sleep Syndrome
- Drugs
- Psychiatric disorders
- Central hypersomnias
- Circadian rhythm disorders
what is restless leg syndrome?
- Very common sensorimotor disorder
- Mainly characterised by urge to move legs or sensory
symptoms in legs - May also affect other body parts: arms, abdomen, face
- Four essential criteria:
- Urge to move legs, usually with unpleasant sensations
- Urge/sensations worsen with inactivity
- Urge/sensations partially or transiently relieved by movement
- Urge/sensations present or worse in evening/night
What is a central hypersomnia?
Narcolepsy
What are the main symptoms of narcolepsy?
- Excessive daytime sleepiness
- Hypnogogic hallucinations
- Sleep paralysis
- Cataplexy = Sudden temporary loss of muscle tone, usually precipitated by strong emotion, esp laughter and joking
What do you know about the excessive daytime sleepiness in narcolepsy?
- Discrete sleep attacks or persistent sleepiness
- Inappropriate times or locations
- Brief sleeps usually refreshing
- Total sleep time per 24 hours is normal
What do you know about the hypnogogic hallucinations in narcolepsy?
- Predominantly visual, but may also be auditory
- Generally lasts for less than ten minutes
- Occasionally more bizarre, especially if associated with sleep paralysis
What is a brain finding in people with narcolepsy?
Loss of hypocretin-producing cells in lateral hypothalamus
What factors influence the circadian rhythm?
Light, melatonin, genetics, exercise, temperature, feeding, aging
What do you know about the epidemiology of MS?
- More women than men
- Onset around 30
- More people further away from he equator
What are risk factors for developing MS?
- Genetics
- Infectious agents (EBV)
- Low vitamin D
- Cigarette smoking (linked to onset and progression)
- Obesity in early life
What are main symptoms of MS?
- Optic neuritis
- Reduced vision - central and colour
- Pain on eye movement
- RAPD, swollen optic disk
- In normal optic neuritis, symptoms get better and go away - Lhermitte’s sign (When you put your head down on your chin, you get pain in the neck)
What are other symptoms of MS?
Clumsiness, fatigue, anxiety, sleep disorders, sleep disorders, impaired speech and swallowing, tremor
What investigations would you do for MS?
MRI
Blood tests to rule out other conditions
Lumbar puncture
Visual evoked potentials
What are the differentials for MS?
Acute disseminated encephalomyelopathy
Idiopathic transverse myelitis
Neuromyelitis optica
Neurosarcoidosis
Migraine
Tumours
What is the pathological hallmark of MS?
Demyelation within the central nervous system due to innate and adaptive immune systems
How would you manage MS?
- General measures
- No smoking
- Healthy diet
- Positivity
- Vitamin D
- Disease-modifying drugs
- Siponimod
- Ozanimod
- Ofatumumab
- Ponesimod
- Relapse management
- Symptom control
What are good prognostic factors in MS?
Young age of onset
Female
Onset optic neuritis
First remission greater than 2 years
What are adverse prognostic factors in MS?
Older age of onset Male Symptom of onset motor Relapse frequency 3 or more in first five years Incomplete recovery after relapse
How would you manage relapses?
ONLY treat relapses that cause distress
Steroids: for mild-mod oral for 5 days; for severe IV 3 days
–> methyl-prednisolone
What would you give for severe relapses when steroids do not work?
Plasma exchange
What is the most helpful investigation for MS?
MRI brain and spine
What is a tremor?
Involuntary, rhythmic, oscillatory movement of a body part
What are key facts about an essential tremor?
- Isolated tremor syndrome of bilateral upper limb action tremor
- At least 3 year duration
- With or without tremor in other locations like head, voice, or lower limbs
- Absence of other neurological signs such as dystonia, ataxia or parkinsonism
What often improves essential tremors?
Alcohol
Involvement of cerebello-thalamo-cortical pathways - stimulation of the VIM improves the tremor
What is the course of essential tremor?
Slowly progressive
How would you treat essential tremors?
- If mild, no treatment required
- If moderate-severe:
- Propranolol
- Primidone
- Combined propranolol or primidone
- Emerging Treatments: Gabapentin and Topiramate
What is dystonic tremor syndrome?
Dystonic tremor syndromes are tremor syndromes combining tremor and dystonia as the leading neurological signs
What are key facts about dystonic tremor syndrome?
Position-dependence or task-specificity
Antagonistic gestures may lead to a reduction in the tremor amplitude
Irregular amplitude and variable frequencies (mostly below 7 Hz), “Jerky” tremor
Topographically, they present as head or arm tremor, but may also occur as voice, jaw or facial tremor and in some case tremor may precede dystonia (DD: essential tremor).
How would you treat dystonic tremor syndrome?
anti-cholinergic (Trihexyphenidyl), tetrabenazine, Beta blockers
What causes cortical tremors?
Drugs (fluoxetine, clozapine, gabapentin etc)
What are key facts about functional tremors?
Also called psychogenic tremor
Characterised by distractibility, frequency entrainment or antagonistic muscle co-activation
What are the main features of PD?
- Bradykinesia
- Rigidity
- Resting tremor
- Postural instability
- Gait abnormalities
What kind of lesions do MRI scans pick up well?
Inflammatory lesions
What disease can a PET scan detect?
Dementia
How does CSF flow?
CSF is produced by the CP
Flows from lateral ventricle to third ventricle via the interventricular foramen
Then to 4th via cerebral aqueduct
In 4th ventricle:
- continue within the ventricular system and flow through the spinal canal or,
- flows into the subarachnoid space via the foramen of Magendie or via the foramina of Luschka
Reabsorbed into the systemic circulation via the arachnoid villi into the dural-venous sinuses
What are contraindications for lumbar punctures?
- Platelet count under 40
- Local skin infection
- Local developmental abnormalities
- Raised ICP
What are the most common nerve root disorders?
Cervical radiculopathy
Lumbrosacral radiculopathy
How does a cervical radiculopathy often present?
Neck and upper limb pain
Sensory disturbance and weakness in arm, hand an finger
How does a lumbrosacral radiculopathy often present?
Lower back pain: sciatica type symptoms and weakness in lower limb
What is the most common anterior horn cell disorder?
Motor neuron disease
What is the most common neuromuscular disorder?
Myasthenia gravis
What are the most common muscle disorders?
Inflammatory myopathies
What are groups often develop myasthenia gravis?
Mainly in young women and old men
What muscles and system does MG affect?
- Ocular muscles: eyelids
- Facial muscles
- Speech, swallowing (bulbar)
- Limbs (generalised)
- Does not affect bladder, bowel or heart
What are suggestive clinical signs of MG?
- Weakness without muscle pain
- Usually improvement with rest
- Gradual or rapid onset
- May come and go initially, sometimes over months
- May follow illness, stress or pregnancy
- Weakness becomes worse the more a certain muscle / muscle group is used
What is the hallmark of MG?
Fatiguable, painless muscle weakness that improves with rest
What do blood tests for MG show?
Blood tests show positive anti-acetylcholine receptor (AChR) antibodies
MuSK and LRP4 antibodies much less common
How would you manage MG?
- Pyridostigmine: Reduces the breakdown of ACh between nerve and muscle
- Immune treatments: corticosteroids
- Crisis options: ICU and plasma exchange with iV immunoglobulins
What are acquired muscle disorders?
Inflammatory muscle disease:
- Polymyositis
- Dermatomyositis
- Inclusion body myositis
- Necrotising myopathy
How do you diagnose muscle disorders?
Needle biopsy
What are the five most common muscle diseases?
- Myotonic dystrophy (30%)
- Dystrophinopathies (20%)
- Facioscapulohumeral dystrophy
- Limb girdle
- Spinal muscular atrophy
What are key factors about myotonic dystrophy 1?
Distal muscle wasting and weakness, early cataracts
Cardiac problems
Distal muscle weakness in DM1, proximal in DMD2
What are key factors of Duchenne?
Delayed walking Waddling gait Gower's manoeuvre Calf pseudo hypertrophy Loss of ambulation by 12 years
Give corticosteroids in young boys
What are key factors of Becker muscular dystrophy?
Walking until after 16, then wheelchair bound
Give corticosteroids in young boys
What are key facts about facioscapulohumeral?
Early involvement of facial and scapular stabiliser muscles
Facial weakness often asymptomatic
Asymmetrical in limbs
Activities become more and more difficult, disease spreads (but no cardio-resp involvement)
