Neurology Flashcards

1
Q

What is an upper motor neurone?

A

A neurone located entirely in the CNS. The cell body is located in the primary motor cortex.

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2
Q

What are the signs of UMN weakness?

A
  1. Spasticity
  2. Increased muscle tone
  3. Hyper-reflexia
  4. Minimal muscle atrophy
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3
Q

What are the causes of UMN weakness?

A
  1. MS
  2. Brain tumour
  3. Stroke
    Heredity spastic paraplegia affects UMN’s
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4
Q

What are the signs of spastic paraplegia?

A
  1. Abnormal gait
  2. Bladder problems
  3. High arched feet
  4. Increased tone in legs and minimal muscle wasting
  5. Family history
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5
Q

How many people with alzheimer’s develop Parkinsonism?

A

25%

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6
Q

What are the symptoms of Alzheimers

A
  1. Selective attention
  2. Language impairments – difficulty in naming and understanding
  3. Apraxia
  4. Global deficits
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7
Q

What is the first cognitive marker of Alzheimer’s?

A

First cognitive marker is usually short term memory impairment

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8
Q

What are the histological signs of Alzheimers?

A
  1. Plaques of amyloid

2. Neuronal reduction

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9
Q

How is Alzheimer’s disease diagnosed?

A

When criteria (Braak Staging) for intermediate or high likelihood of AD is met and history of dementia

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10
Q

What is the stages in Braak staging?

A
  1. Stage ½ - low likelihood
  2. Stage ¾ - intermediate likelihood
  3. Stage 5/6 – low likelihood
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11
Q

What is the cause of sematic dementia?

A

symmetrical temporal lobe atrophy

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12
Q

What is functional memory dysfunction?

A

acquired dysfunction of memory that significantly affects a persons private/professional life in the absence of organic abuse.

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13
Q

How can you determine whether it is function memory or degenerative disease?

A
  1. Ask when was the last time your memory let you down
  2. Someone with dysfunction – good detailed answer
  3. Someone with degenerative – would struggle to answer
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14
Q

How is brain function assessed?

A

fMRI and PET scans

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15
Q

What is the treatment for Alzheimer’s?

A
  • Ace inhibitors e.g. galantamine

- Supportive care

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16
Q

What is dementia?

A

A set of symptoms that include memory loss and difficulties when thinking, problem solving or language. A disease with a progressive decline in cognitive function

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17
Q

What is the epidemiology of dementia?

A

10% over 65 have dementia and 20% over 80 have it.

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18
Q

What are the causes of dementia?

A
  1. Alzheimers disease (65%)
  2. Fronto-temporal disease – frontal lobe atrophy on MRI
  3. Vascular
  4. Lewy body
  5. Vitamin deficiency e.g. B12
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19
Q

What are the symptoms of fronto-temporal dementia symptoms?

A
  1. Behaviour variants
  2. Language variants
  3. Often overlaps with MND
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20
Q

What other disease is dementia closely associated to?

A

MND

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21
Q

What is the function of the temporal lobe?

A

hearing, language comprehension, memory and emotion

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22
Q

What other disease affects the temporal lobe?

A

Alzheimer’s

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23
Q

What investigations would you pursue in suspected dementia?

A
  1. Good history of Symptoms
  2. 6CIT – 6 cognitive impairment items
  3. Blood tests –> b12 deficiency
  4. MRI
  5. Amyloid and tau histopathology
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24
Q

How do you prevent dementia?

A
  1. Stop smoking
  2. Healthy diet
  3. Regular exercise
  4. Healthy weight
  5. Low alcohol intake
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25
What is the treatment for dementia?
Occupational therapy | Acetylcholine Esterase inhibitors
26
What is Spondylolisthesis?
Spillage of vertebra over the one below
27
What is Spondylosis?
degenerative disc disease
28
What is Myelopathy?
Spinal cord disease, UMN problem
29
What is radiculopathy?
Spinal nerve root disease, LMN problem
30
What is weakness?
impaired ability to move a body part in response to will
31
What is paralysis?
Ability to move a body part in response to will is completely lost.
32
What is ataxia?
willed movements are clumsy and uncontrolled
33
What is involuntary movements?
Spontaneous movement independent of will.
34
What is apraxia?
The ability to carry out familiar purposeful movements is lost in the absence of paralysis or other sensory/motor impairments
35
What type of inheritance has huntington's disease got?
AD inheritance
36
What does huntingtons disease affect?
The striatum (caudate nucleus) of the basal ganglia.
37
What Neurotransmitter does HD affect?
GABA
38
What are the early signs of HD?
Irritability, depression and personality change
39
What are the late signs of HD?
chorea, psychiatric problems and dementia
40
How is dopamine produced?
Tyrosine --> l-dopa --> dopamine
41
What is the pathophysiology of PD?
- Loss of dopamine producing hormones in the substantia nigra
42
What does the substantia nigra project too?
Striatum.
43
What are the symptoms of PD?
1. Bradykinesia – problems; doing up buttons, shuffle walking, writing smaller etc 2. Rigidity – pain, problems turning in bed 3. Resting tremor 4. Postural instability 5. Depression, psychiatric problems, dementia
44
Is the presentation of parkinson's disease symmetrical?
No. It is asymmetrical with one side being worse than the other.
45
What is the treatment of Parkinson's disease?
1. L dopa 2. Dopamine agonists – ropinirole, cabergoline 3. COMT/MAO inhibitors – selegiline
46
What are the histopathological signs of Parkinsons disease?
Lewy bodies Loss of dopaminergic neurones in the substantia nigra
47
What area of the brain does deep brain stimulation affect?
sub-thalamic nucleus
48
What is the treatment for essential tremor?
beta blockers, primidone
49
What are the 4 main stages of PD?
1. Resting tremor 2. Bradykinesia 3. Postural istability 4. Rigidty
50
What are the symptoms of trigeminal neuralgia?
1. Unilateral face pain 2. Pain commonly in V3 distribution 3. Electric shock like shooting/sharp pain
51
How long does trigeminal neuralgia last?
a few seconds
52
What are the activities that make trigeminal neuralgia worse?
Washing your face, eating, shaving and talking
53
What is encephalitis?
Inflammation of the brain.
54
What are the symptoms of encephalitis?
1. Fever 2. Headache 3. Lethargy 4. Behavioural change
55
What would a lumbar puncture show in a patient with encephalitis?
1. Lymphocytosis 2. Raised protein 3. Normal glucose
56
What viruses can cause encephalitis?
1. Herpes simplex 2. Varicella zoster 3. HIV
57
What is the treatment for encephalitis?
Acyclovir
58
Who is encephalitis more common in?
The immunocompromised.
59
If a patient has aphasia which area is affected?
Broca's area
60
If a patient has receptive dysphasia which area is affected?
Wernicke's area
61
What are muscle spindles innervated by?
Gamma motor neurones
62
What is the function of muscle spindles?
Control muscle tone and tell you how much a muscle is stretched
63
What is the cause of pyramidal pattern of weakness in the upper limb?
The flexors are stronger than the extensors.
64
What is the cause of pyramidal pattern of weakness in the lower limb?
The extensors are stronger than the flexors.
65
What is the treatment for sciatica without neurological signs?
Conservative management and NSAIDs
66
What are the 4 signs of intra-cranial pressure rising?
1. Papilloedema 2. Focal neurological signs 3. Loss of consciousness 4. New onset seizures
67
What are the signs of normal pressure hydrocephalus?
1. Magnetic gait 2. Incontinence 3. Dementia
68
What is used in the thrombolytic treatment of ischaemic stroke?
Altepase is used in ischaemic stroke --> converts plasminogen into plasmin so promotes breakdown of the clot.
69
How long can you do the thrombolysis on a stroke patient for after the onset of symptoms?
4.5 hours.
70
What condition presents with polyneuropathy?
GB syndrome.
71
What is the treatment for raised ICP?
Osmotic diuresis with mannitol
72
What is the most common cause of spinal cord compression?
Secondary malignancy from lung, breast, prostate and or kidney.
73
What are the symptoms of Rabies?
1. Fever 2. Anxiety 3. Confusion 4. Hydrophobia 5. Hyperactivity
74
What is the cause of tetanus?
Clostridium tetani (gram pos anaerobe) causes tetanus
75
What are the symptoms of tetanus?
1. Trismus (lockjaw) 2. Sustained muscle contraction 3. Facial muscle involvement
76
What is the cause of botulism?
Clostridium botulinum
77
What are the symptoms of botulism?
1. Diplopia (Double vision) 2. Dysphagia 3. Peripheral weakness
78
What 3 Organisms can cause meningitis?
1. N. meningitidis (G-ve diplococci) 2. S. pneumoniae (g+ve cocci chain) 3. Listeria monocytogenes (g+ve bacilli) --> shows as gram positive film
79
What are 3 organisms that can cause meningitis in children?
1. E.coli (G-ve bacilli) 2. Group B streptococci e.g. s.agalactiae 3. Listeria monocytogenes --> shows as gram positive film
80
How would a listeria infection causing meningitis be treat?
Cefotaxime and amoxicillin
81
What are the symptoms of meningitis?
1. Non blanching petechial rash 2. Neck stiffness 3. Headache 4. Photophobia 5. Papilloedema 6. Fever
82
What investigations would you order if you suspected meningitis?
1. Blood cultures 2. Bloods – FBC, U+E, CRP, Serum glucose, lactate 3. Lumbar puncture 4. CT head 5. Throat swabs
83
What is the management for meningitis?
1. Treat with antibiotics --> Cefotaxime 2. Cefotaxime + amoxicillin if L.monocytogenes infection 3. Steroids to reduce inflammation in S.pneumoniae infection
84
What is the meningitis vaccine schedule?
- Meninigits B - 8-16 Weeks - Meningitis C - 12 weeks and 1 year - Meningitis ACWY - 14 years old
85
What prophylaxis is effective against N. meningitidis?
Ciprofloxacin
86
What is the most common cause of viral meningitis?
Enterovirus
87
What is the CSF like in bacterial meningitis?
Cloudy
88
What is the CSF like in someone with viral meningitis?
High lymphocytes, normal/high protein + normal glucose
89
What is the CSF like in someone with bacterial meningitis?
High neutrophils, protein and low glucose
90
What are the potential side affects of a lumbar puncture?
1. Headache 2. Damage to spinal cord 3. Paraesthesia 4. CSF leak
91
What investigations could you do on a CSF sample?
- Protein and glucose levels - MCS - Bacterial and Viral PCR
92
What is a LMN?
A neurone that carries signals to effectors. The cell body is in the brain stem or spinal cord.
93
What are the signs of LMN weakness?
1. Flaccid 2. Reduced muscle tone 3. Hypo-reflexia 4. Muscle atrophy 5. Fasciculations
94
Where are the cell bodies of LMN found?
LMN cell bodies are found in the spinal cord or in the cranial nerve nuclei in the brainstem.
95
What investigations would you do if you suspected LMN issues?
1. EMG 2. MRI 3. Muscle enzyme 4. Lumbar puncture --> CSF
96
What diseases are associated with motor neuron damage?
1. MN disease 2. Spinal atrophy 3. Poliomyelitis 4. Spinal cord compression
97
What are 5 sites of damage along the final common pathway?
1. Cranial nerve nuclei 2. MN 3. Spinal ventral roots 4. Peripheral nerves 5. NMJ --> cause of Myasthenia Gravis 6. Muscles
98
What pathologies are associated with ventral spinal root damage?
1. Tumours 2. Prolapsed intervertebral disc 3. Cervical/lumbar spondylosis
99
What are the signs of UMN damage?
1. Motor cortex lesions 2. Internal capsule 3. Brainstem 4. Spinal cord
100
What are the clinical patterns associated with Motor Neurone disease?
Muscular atrophy – anterior horn lesion --> LMN, fasciculations, weakness and wasting Amytotrophic lateral sclerosis – loss of neurones in MC and anterior horn of the SC --> LMN and UMN signs --> progressive spastic tetra-paresis Progressive bulbar palsy --> destruction of Cn 9-12
101
What might someone with progressive bulbar palsy present with?
- Dysphagia - Dysarthia (slurred speech) - Wasting and fasciculations of the tongue
102
What is a long term consequence of ALS?
Progressive spastic tetraparesis
103
What are the onset limb symptoms of MND?
- Weakness/clumsiness - Wasting of muscles - Foot drop and tripping
104
What are the onset bulbar symptoms of MND?
1. Dysarthria 2. Slurred speech 3. Dysphagia 4. Wasting and fasciculation of tongue
105
What are the respiratory symptoms of MND?
1. Dyspnoea 2. Orthopnoea 3. Poor sleep
106
What is treatment for MND?
Riluzole – inhibits glutamate release and slows disease progression Ventilatory support Feeding by a PEG
107
What is a TIA?
An acute loss of cerebral or ocular function with symptoms lasting <24hrs and with a complete clinical recovery.
108
What are the causes of a TIA?
Inadequate cerebral blood flow --> ischaemia or embolism
109
What is the use of the ABCD2 score?
Essential to assess their risk of having a stroke in the next 7 days
110
What is the ABCD2 score?
- Age >60 - BP --> 140/90 - Clinical features --> unilateral weakness/speech disturbance - Duration - Diabetes
111
What is the management of a TIA?
Control BP --> statins and aspirin/clopidogrel
112
What is Guillain-Barre's syndrome?
Acute neuropathy caused by Autoimmunity when healthy nerve cells are destroyed in the PNS.
113
What is the cause of Guillain-barre's syndrome?
Often post op infection following CMV, EBV and after a campylobacter jejuni infection
114
What are the symptoms of Guillain-barre's syndrome?
1. Ascending muscle weakness | 2. Changes in sensation and pain
115
What can non-missle trauma to the scalp cause?
Contusion and laceration
116
What can non-missle trauma to the skull cause?
Skull fracture
117
What can non-missle trauma to the brain cause?
Contusions, lacerations, hemorrhages and infection
118
What can diffuse vascular trauma to non missile trauma cause?
Multiple potential hemorrhages.
119
What are 2 risks associated with skull fracture?
1. Haematoma | 2. Infection
120
What is the aetiology of diffuse traumatic axonal injury?
- Acceleration/deceleration --> shearing rotational forces --> axonal tearing
121
What is the mechanism behind acceleration/deceleration?
- Force to head causes differential brain movements -> shearing and compressive stress - This increases the risk of axon tear and blood vessel damage.
122
What is a contusion?
Superficial brain bruse
123
What is a laceration?
When a contusion is sever enough to tear the pia mater.
124
What are 3 examples of primary headaches?
- Migraine - Tension headaches - Cluster headaches.
125
What is the most common secondary headache?
medication overuse headache
126
What are 3 examples of secondary headaches?
- Meningitis - Subarachnoid haemorrhage - Giant cell arteritis - Medication overuse headaches
127
What are 5 important questions to ask when a patient presents with headaches?
1. Time – Onset, duration, frequency and pattern 2. Pain – Severity, quality, site and spread. 3. Associated symptoms e.g. nausea, vomiting, photophobia, phonophobia 4. Triggers/aggravating/relieving factors 5. Response to attack – does medication work? 6. What are the symptoms between attacks?
128
What are 5 red flags for suspected brain tumour?
1. New onset headache and history of cancer 2. Cluster headache 3. Seizure 4. Significantly altered consciousness, memory or confusion 5. Other abnormal neuro exams 6. Papilloedema (swollen optic disc)
129
How long do migraines last?
4-72 hours
130
What is migraine pain like?
1. Unilateral 2. Throbbing 3. Moderate to severe pain 4. Aggravated by physical activity May also experience photophobia and or phonophobia. As well as nausea but no vomiting.
131
What can headaches be subdivided into?
- Episodic 20% with aura and 80% without | - Chronic migraine
132
What might a patient with an aura complain of?
1. Visual disturbances e.g. flashing lights 2. Sensory disturbances e.g. tingling in hands and feet 3. Language aura and motor aura
133
What is the treatment for migraines?
1. Ensure accurate diagnosis 2. Lifestyle modification and trigger management 3. Psychological and behaviour treatment 4. Abortive treatment; PO triptan and NSAIDs 5. Anti-emetics 6. Preventive treatment --> propranolol, acupuncture and amitriptyline
134
What is the most common type of primary headache?
tension headache
135
How long do tensions headaches last?
30 mins to 7 days
136
How can you diagnose a migraine without an aura?
- 5 attacks lasting between 4-72 hrs w/ nausea /vomiting or photo/phonophobia - Unlateral throbbing pain - Pain aggravated by physical activity
137
What are the triggers of migraines?
Cheese, OCP, Alcohol, caffeine, anxiety, travel and exercise
138
What is the pain associated with tension headaches?
1. Bilateral 2. Pressing/tight 3. Mild/moderate pain 4. Not aggravated by physical activity Wouldn’t have any other symptoms.
139
What is the criteria for diagnosing medication overuse headaches?
1. Headache present for 1 in every 2 days 2. Regular use for more than 3 months and symptomatic for over 1 3. Headache has developed or worsened during drug use.
140
What is the pain of a cluster headache?
1. Severe/very severe pain 2. Pain around the eye/temporal area 3. Unilateral 4. Headache is accompanied by cranial autonomic features.
141
How long do cluster headaches last for?
15 mins to 3 hrs
142
What 4 features of a headache might make you suspect meningitis?
1. Non blanching – purpura rash 2. Neck stiffness 3. Photophobia 4. Pyrexia
143
What investigations could you do with headaches when the cause is unknown?
1. Bloods 2. Blood cultures 3. Throat swab 4. Blood for serology and PCR 5. CT Head
144
What nerve does carpal tunnel syndrome affect?
Median nerve
145
What are the risk factors of carpal tunnel syndrome?
- Prengnacy - Obesity - RA - Hypothyroidism - Acromegaly
146
What investigations would you do in carpal tunnel syndrome?
Tinnel’s and Phalen’s test
147
What is MS?
A chronic auto-immune disorder of the CNS characterised by an inflammatory and demyelinating disease characterised by progressive disability.
148
Describe the pattern of MS?
- Patients will have multiple attacks over the years, there is no progression between attacks - It is a slow and progressive disease, leading to a slow decline in neurological functions - Can be exacerbated by Heat --> warm shower
149
What is the epidemiology of MS?
- Presents between 20-40, affects more females and rarer in tropics.
150
What is the aetiology of MS?
- Environment – e.g. EBV infection is associated - Genetic predisposition - Chance
151
What is the pathophysiology of MS?
1. Genetic susceptibility + environmental trigger --> T cell activation 2. B cell and macrophage activation --> inflammation, demylination and axon destruction Myelin eventually regenerates but thinly so it’s less efficient.
152
What are the major features of MS plaque?
1. Inflammation 2. Demyelination 3. Axon loss 4. MS plaques are seen histologically around the blood vessels – perivenular.
153
What are the signs of MS?
1. Spasticity 2. Nystagmus + double vision 3. Optic neuritis - impaired vision and pain 4. Sensory symptoms 5. Weakness 6. Bladder + sexual dysfunction 7. Paresthesia
154
What are atypical symptoms of MS?
if a patient has them they are unlikely to have MS 1. Aphasia 2. Hemianopia 3. Muscle wasting
155
What is the diagnostic criteria for MS?
1. >2 CNS Lesions dessimated in time and space | 2. Exclusion of conditions that may give a similar clinical presentation
156
What are 3 differential diagnoses of MS?
1. SLE 2. Sjogren’s 3. AIDs
157
What investigations would you order in suspected MS?
1. MRI or brain and spinal cord – lesions may be seen around ventricles 2. Lumbar puncture – CSF Electrophoresis of CSF would show oligoclonal IgG bands
158
What is the management of MS?
- Short course steroids to reduce severity  methylprednisolone - Beta-interferons (anti-inflammatories) - Stem cell transplants - Muscle relaxants for spasticity - Natalizumab
159
What is the non pharmacological management of MS?
1. Psychological therapies and counselling 2. Speech therapists 3. Physiotherapy and occupational therapy.
160
What is myasthenia gravis?
Myasthenia gravis is an AI disorder. AI antibodies (IgG) attach to Ach receptors. It causes abnormal weakness.
161
What are the symptoms of myasthenia gravis?
Weakness and fatigue
162
What investigations would you order in myasthenia gravis?
1. Serum anti-Ach receptor antibodies | 2. Ask the patient to count to 50
163
What autoantibodies would be present in myasthenia gravis?
1. Anti-AchR antibodies | 2. Antibodies against tyrosine kinase
164
A patient complains of having a seizure. An eye-witness account tells you that the patient had their eyes closed, was speaking and there was waxing/waning/pelvic thrusting. They say the seizure lasted for about 5 minutes. Is this likely to be an epileptic or a non-epileptic seizure?
Likely to be non-epileptic
165
A patient complains of having a seizure. An eye-witness account tells you that the patient was moving their head and biting their tongue. They say the seizure lasted for just under a minute. Is this likely to be an epileptic or a non-epileptic seizure?
Likely to be epileptic
166
A patient complains of having a 'black out'. They tell you that before the 'black out' they felt nauseous and were sweating. They tell you that their friends all said they looked very pale. Is this likely to be due to a problem with blood circulation or a disturbance of brain function?
likely due to a blood circulation problem e.g. syncope.
167
You see a patient who you suspect has meningitis. It is noted that they have raised ICP. Would you do a lumbar puncture?
NO! You would not do a lumbar puncture due to the risk of coning.
168
What muscle is essential for correcting the extorsion action of lateral rectus when walking downstairs
Superior oblique CN4 innervations
169
What muscle needs to be in working around to test the action of the superior and inferior rectus
Lateral rectus --> patient is first asked to abduct their eyes 30 degrees, requiring the LR.
170
How can the Superior and inferior oblique can be tested
Position the eye so the superior and inferior recti are giving maximum rotation and giving complete correction.
171
What is the function of the cerebellum?
Precise control, fine adjustment and coordination of motor activity based on continual sensory feedback. It controls how you do something --> adjusts for error
172
What are the layers of the cerebellum?
1. Molecular 2. Purkinje layer 3. Granular layer
173
What are 5 signs of cerebellar dysfunction?
1. Dysdiadochokinesia – inability to perform rapid, altering movement 2. Ataxia 3. Nystagmus 4. Intention tremor 5. Slurred speech 6. Hypotonia
174
How can you classify ataxia severity?
- Mild – independent or 1 walking aid - Moderate – patient requires 2 walking aids - Severe – patient is wheelchair dependent
175
What is friedrichs ataxia?
An AR inherited cerebellar ataxia which presents in early childhood and increases the risk of diabetes/CV problems.
176
What is spinocerebellar ataxia?
AD inherited cerebellar ataxia which presents with difficulty focusing and migraines
177
What are the causes of acquired cerebellar ataxia?
1. Toxic e.g. alcohol and lithium 2. Idiopathic 3. Neurodegenerative 4. Immune mediated
178
What is an example of immune mediated cerebellar ataxia?
1. Post infection cerebllitis 2. Gluten ataxia 3. Para-neoplastic cerebellar degeneration (secondary from lung or breast) 4. Primary AI cerebellar ataxia.
179
What is the cause of chronic traumatic encephalopathy?
often seen following repetitive mild traumatic brain injury
180
What are the initial symptoms of chronic traumatic encephalopathy?
1. Irritable 2. Impulsive 3. Aggressive 4. Depressed
181
What are the later symptoms of chronic traumatic encephalopathy?
1. Dementia 2. Gait and speech problems 3. PD symptoms
182
What are the signs of chronic traumatic encephalopathy?
1. Atrophy of Deep brain structures 2. Enlarged ventricles 3. Tau deposited in sulci
183
What is the epidemiology of giant cell arteritis?
- Affects those >50y/o - Incidence increases with age - Twice as common in women
184
What are the symptoms of giant cell arteritis?
- Headache - Scalp tenderness - Jaw claudication - Acute blindness - Malaise
185
What is giant cell artertis?
Temporal arthritis --> inflammation of the large blood vessels in head neck and arms.
186
What are the investigations in giant cell arteritis?
1. Bloods for inflammatory markers e.g. CRP, ESR | 2. Temporal artery biopsy
187
What are the clinical investigation findings in giant cell arteritis?
- Palpable and tender temporal arteries w reduced pulsation | - Sudden monocular visual loss, optic disc is swollen
188
What are the diagnostic criteria of giant cell artertis?
- Age >50 - New headache - Temporal artery tenderness - Abnormal artery biopsy
189
What is the treatment for giant cell arteritis?
- Prompt corticosteroids e.g. prednisolone - Methotrexate sometimes - Osteoporosis prophylaxis is important --> lifestyle advice and vit D
190
What are the 3 cardinal presenting times of a brain tumour?
1. Raised ICP 2. Progressive neurological deficit 3. Epilepsy
191
What are the signs of raised ICP?
1. Headache 2. Drowsiness 3. Vomiting Cardinal sign of raised ICP is Papilloedema due to obstruction of venous return from the retina.
192
Where do primary tumours originate from?
The glial cells 1. Astrocytoma (90%) 2. Oligodendroglioma (5%) – associated with defects in chromosomes 1 and 19
193
What are 2 factors that worsen a brain tumour?
1. Worst first thing in the morning | 2. Worst when coughing, straining or bending forwards
194
Where might secondary brain tumours originate from?
1. Lung (NSCC) 2. Breast 3. Malignant melanoma 4. Kidney 5. Gut
195
What is the treatment for secondary brain tumours?
1. Surgery and adjuvant therapy 2. Chemotherapy 3. Supportive care
196
Describe an oligodendroglioma
1. All IDH1 mutation positive 2. Chemo sensitive 3. 10-15 year survival
197
Describe the WHO glioma grading.
1. Benign paediatric tumour 2. Pre malignant tumour – Seizures and seen in young adults 3. Anaplastic astrocytoma – cancer 4. Glioblastoma multiforme (GBM)
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What causes grade 2 deterioration?
1. Tumour transformation to malignant phenotype 2. Progressive mass effect due to slow growth 3. Progressive neurological deficit from functional brain destruction.
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What is the physiology of muscle contraction?
1. Ca2+ released from sarcoplasmic reticulum --> T tubules 2. Binds to troponin C which moves tropomyosin to expose a myosin binding site 3. Myosin binds to specific areas on actin using ATP 4. Cross bridge formation and detachment cycle
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What is dystrophin and what disease is it affected in?
Dystrophin – links the ECM to the cytoskeleton of a muscle fibre - Affected in Duchenne muscular dystrophy (X linked recessive disease)
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When does DMD present?
Often presents at <5 y/o, patient often in a wheelchair by 13
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What cardiac problems are associated with DMD?
arrhythmias, conduction block and cardiomyopathy
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What is the histology of DMD?
Muscle cell nuclei all over the place --> muscle cells all different shapes and sizes Absence of dystrophin
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What is the pathophysiology of DMD?
Large deletions, duplications and mutations disrupt the reading frame --> out of frame mutations --> dystrophin not produced --> DMD phenotype
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What is the treatment of DMD?
- Supportive – physio, OT, home adaptations - Scoliosis corrective surgery - Manage cardiac problems - Steroids - Gene therapy
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What is the inheritance in myotonic muscular dystrophy?
AD
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What is the pathophysiology of Myotonic muscular dystrophy?
CTG expansion non-coding region of DMPK --> Down stream effects --> mis-splicing of proteins --> Cl- channel gene affected --> myotonia.
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What are the adult onset symptoms of myotonic muscular dystrophy?
1. Myotonia – delayed relaxation after contraction 2. Distal muscle weakness 3. Cataracts 4. Male hypogonadism 5. Frontal baldness 6. Diabetes 7. Cardiac problems
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What is the treatment of myotonic mucsular dystrophy?
- Supportive care - Treat cardiac issues - Anti-convulsants for myotonia
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What is a recessive type of msucular dystrophy?
Beckers muscular dystrophy - a mild type of DMD
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What is the pathophysiology of beckers MD?
In frame mutations so dystrophin is produced but shortened or defective.
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What is the common pathway to cause GBM?
Initial genetic error of glucose glycolysis --> IDH 1 mutation --> excessive build up of 2-hydroxyglutarate --> genetic instability in glial cells triggered.
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What are good prognostic factors for GBM?
1. <45 yo 2. Aggressive surgical therapy 3. Good post op performance 4. Secondary GBM 5. MGMT mutant --> will respond well to chemo
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What is the treatment for GBM?
1. Resective surgery | 2. Adjuvant chemo with temozolomide
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What is cauda equina syndrome?
Spinal compression at or distal to the L1 nerve root that disrupts sensation and movement.
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What are the signs of cauda equina syndrome?
1. Saddle anaesthesia 2. ED 3. Bladder/bowel dysfunction 4. Variable leg weakness 5. Bilateral sciatica --> all the way from leg to foot
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What are the investigations in cauda equina syndrome?
MRI of the spine
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What is a syncope?
Insufficient blood or oxygen supply to the brain that causes paroxysmal changes in behaviour, sensation and cognitive processes.
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What are 5 signs that transient loss of consciousness is down to syncope?
1. Situational 2. 5-30 seconds 3. Sweating 4. Nausea 5. Pallor 6. Dehydration
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What is a non epileptic seizure?
mental processes associated with psychological distress causing paroxysmal changes in behaviour, sensation and cognitive processes.
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What are the 5 signs of non-eplileptic seizures?
1. Situational 2. 1-20 mins --> longer than epileptic 3. Eyes closed 4. Crying or speaking 5. Pelvic thrusting 6. History of psychiatric illness A non-epileptic seizure will last longer than an epileptic one.
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What are the categories of epileptic seizures?
1. Focal epilepsy – only one portion of brain is involved | 2. Generalised epilepsy – whole brain is affected
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Give an example of focal epileptic seizures?
Treat with carbamazepine - Simple partial seizures with consciousness - Complex partial seizures without consciousness - Secondary generalised seizures
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Give an example of a generalised seizure
Treat with sodium valproate 1. Absence seizures 2. Myoclonic seizures 3. Generalised tonic clonic seizures
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What is a generalised tonic seizure?
sudden onset rigid tonic phase followed by convulsion (clonic), lasts up to 120 seconds and associated with tongue biting and incontinence
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What is an absence seizure?
commonly present in childhood and child ceases activity and stares for a few seconds
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What are myoclonic seizures?
isolated muscle jerking
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What are the side effects of anti-epileptic drugs?
1. Cognitive disturbances 2. Heart disease 3. Drug interactions 4. Teratogenic
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What is the treatment of generalised epileptic seizures?
Treatment for generalised epileptic seizures --> Sodium valproate - Sodium valproate is teratogenic
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What is the treatment for focal epileptic seizures?
Treatment for focal epileptic seizures --> Carbamazepine Carbamazepine inhibits presynaptic Na+ channels so prevents axonal firing
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What is a stroke?
Rapid onset of neurological deficit which is the result of a vasc lesion and is associated with infarction of CN tissue
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What is the cause of a stroke?
1. Cerebral infarct due to embolism or thrombosis | 2. Intracerebral or subarachnoid haemorrhage (15%)
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What is the risk factors of a stroke?
1. Hypertension 2. DM 3. Cigarette smoking 4. Hyperlipidaemia 5. Obesity 6. Alcohol
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What investigation can you do for a stroke?
can determine whether its haemorrhagic or ischaemic
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What are the signs of an anterior cerebral artery stroke?
1. Lower limb weakness and loss of sensation to lower limb 2. Gait apraxia – cant initate walking 3. Incontiencne 4. Drowsiness 5. Decrease in spontaneous speech
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What are the signs of a middle cerebral artery stroke?
1. Upper limb weakness and loss of sensation to upper limb 2. Hemianopia 3. Aphasia 4. Dysphasia 5. Facial drop
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What are the signs of a Posterior cerebral artery stroke?
1. Visual field defects 2. Ccortical blindness 3. Visual agnosia – an inability to interpret visual info 4. Prosopagnosia – an inability to recognise face 5. Dyslexia and Unilateral headache
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What is the treatment for ischaemic stroke?
Thrombolysis --> Alteplase IV to break up clot
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What is the treatment for haemorrhagic stroke?
Surgery to lower pressure and surgical clipping/
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What is the non pharmacological treatment of stroke?
1. Specialised stroke units 2. Swallowing and feeding help 3. Physio and home modifications.
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What is epilepsy?
Tendency to have seizures
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What is a seizure?
a convulsion caused by paroxysmal discharge of cerebral neurones. - Abnormality and excessive excitability of neurones.
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What is 5 causes of transient loss of consciousness?
1. Syncope 2. Epileptic seizures 3. Non-epileptic seizures 4. Intoxication 5. Ketoacidosis/hypoglycaemia 6. Trauma
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What are the causes of epilepsy?
1. Flashing lights 2. Cerebrovascular disease 3. Genetic predisposition 4. CNS infection e.g. meningitis 5. Trauma
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What is an epileptic seizure?
excessive unsychronised neuronal changes in the brain that cause paroxysmal changes in behaviour, sensation or cognitive processes
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What are the signs of an epileptic seizure?
1. 30-120s in duration 2. Positive symptoms e.g. tingling and movement 3. Tongue biting 4. Head turning 5. Muscle pain
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What are the stages of a seizure?
1. Prodromal – often emotional signs 2. Aura 3. Ital 4. Post-ictal --> drowsy and confused
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What is the cause of subarachnoid haemorrhage?
Life threatening stroke caused by bleeding into the space surrounding the brain
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What is the symptom associated with subarachnoid haemorrhage?
Thunderclap headache associated --> maximum severity within seconds
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What is the investigation in suspected subarachnoid haemorrhage?
- CT of the head | - Cerebral angiography
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What is the treatment of subarachnoid haemorrhage?
1. Resuscitation 2. Nimodipine (CCB) 3. Early intervention and close monitoring improve prognosis
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What is an intracerebral haemorrhage?
Intracerebral hemorrhage (ICH) is caused by bleeding within the brain tissue itself — a life-threatening type of stroke.
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What are the primary causes of intracerebral haemorrhage?
1. Hypertension --> Berry or Charcot bouchard aneurysms --> rupture 2. Lobar (amyloid angiopathy)
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What are the secondary causes of intracerebral haemmorhage?
1. Tumour 2. AV malformations 3. Cerebral aneurysm 4. Anticoagulants e.g. warfarin 5. Haemorrhagic transformation infarct
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What is a complication of a charcout bouchard aneurysm?
Rupture, thrombosis and leakage
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If a bleed is present in the Pons Cerebellum Basal ganglia What is the likely cause?
Hypertension
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What is the anticoagulant treatment for intracerebral haemorrhage?
1. Check warfarin consider reversal with Vit K | 2. If low platelets --> platelet transfusion
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What are the 3 intracranial haemorrhages?
1. Extra-dural 2. Sub-Dural 3. Sub-arachnoid
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What is the cause of a subarachnoid haemorrhage?
can be caused by a rupture of a berry aneurysm around the circle of Willis
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What are the symptoms of a subarachnoid haemorrhage?
1. Sudden onset of thunderclap headaches 2. Photophobia 3. Reduced consciousness 4. Neck stiffness 5. Nausea and vomiting
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What investigations of a SA haemorrhage?
1. CT scan of Head --> blood in the sulci 2. Lumbar puncture 3. MRA
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What is the treatment of a SA haemorrhage?
1. Bed rest and BP control 2. CCB to prevent cerebral artery spasm 3. IV saline
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How long should you wait for before doing a lumbar puncture in suspected SAH?
12 Hrs
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Why does the CSF look like in a patient with SAH?
Hb needs to break down and the CSF become yellow --> sign of xanthochromia – bleeding into the SA space.
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What is the cause of SDH?
can be caused by a head injury causing venous rupture
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What is the history of SDH?
- Latent period after injury --> 8/10 weeks later clot breaks down = rise in oncotic pressure - Water is sucked up into the haematoma and signs and symptoms soon develop
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What are the symptoms of SDH?
1. Headache 2. Drowsiness 3. Confusion
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What is the treatment for SDH?
1. Surgical Removal
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Who is at risk of SDH?
Groups at risk  Elderly people, alcoholics and shaken babies
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Why are elderly people and alcoholics at greater risk of SDH?
Elderly people and alcoholics are at a greater risk due to cerebral atrophy which increases tension of the cerebral veins.
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What is the cause of an extradural haemorrhage?
Trauma to the temporal bone causing bleeding from the middle meningeal artery.
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What is the purpose of the ventricles?
Get rid of CSF to prevent a rise in inter-cranial pressure.
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What are the signs of an extradural haemorrhage?
GCS will drop suddenly and accompanied with a rapid deterioration of consciousness
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What is the treatment of an extradural haemorrhage?
Immediate surgical drainage.
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How many strokes are down to intracerebral haemorrhage?
10-15%
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What is the difference in presentation of a subdural and extradural haemorrhage?
1. Time frame – extradural symptoms are more acute 2. GCS – subdural GCS will fluctuate whereas GCS will drop suddenly in someone with extradural haematoma 3. CT – extradural haematoma will have a rounder more contained appearance