Neurology Flashcards
1
Q
What is the function of the corticospinal tract?
A
Voluntary movement control.
2
Q
What is the path of the corticospinal tract?
A
Originates at the primary motor cortex in the frontal lobe.
Lateral corticospinal tract decussates at the medullary pyramids.
Anterior corticospinal tract continues ipsilaterally and synapses at the ventral grey horn at the spinal cord where it decussates.
3
Q
What would be a result of a spinal cord lesion in the corticospinal tract?
A
Ipsilateral loss of movement (paralysis) due to decussation mainly occuring in the medullary pyramids.
4
Q
What is the function of the DCML tract?
A
Fine touch, proprioception, sensation, vibration, 2 point discrimination.
5
Q
What is the pathway of the DCML tract?
A
1st = sensory neuron ascends ipsilateraly through dorsal columns.
Synapses at gracile (LL) or cuneate (UL) fasciculus.
Decussates at the medulla before reaching tertiary neuron in thalamus then primary somatosensory cortex.
6
Q
What would be a result of a spinal cord lesion in the DCML tract?
A
Ipsilateral loss of fine touch, proprioception, sensation, vibration and 2 point discrimination,
7
Q
What is the function of the spinothalamic tract?
A
Pain, temperature sensation.
8
Q
What is the pathway of the spinothalamic tract
A
Primary sensory neuron from nociceptors synapses with secondary neuron in ventral grey horn.
Decussates a few levels above entry point into spinal cord.
Ascends ipsilaterally into tertiary neuron in thalamus.
9
Q
What would be a result of a spinal cord lesion in the spinothalamic tract?
A
Contralateral loss of pain and temperature sensation.
10
Q
What is an Extradural Haemhorrage?
A
Haemorrhage between dura mater and skull.
11
Q
Aetiology of Extradural Haemorrhage
A
Traumatic injury
12
Q
What is the Source and Nature of Bleeding in an Extradural Haemorrhage
A
Injury such as skull fracture can cause rapid bleeding of meningeal arteries.
13
Q
Clinical Presentation of Extradural Haemorrhage
A
Patient may be initially ok
Gradual neurological deterioration e.g onset of headache, drowsiness, confusion.
Due to rapid rise in intracranial pressure
14
Q
Investigation of Extradural Haemorrhage
A
CT head
Acute bleed appears hyperdense (bright white) on CT.
Convex, lemon-like appearance that is concentrated in an area due to dural attachments limiting the spread of blood.
Can result in midline shift
15
Q
What is midline shift?
A
Compression of the brain causing falx cerebri being pushed away from middle.
16
Q
What is a Subdural Haemorrhage?
A
Haemorrhage between the dura and the arachnoid mater.
17
Q
Aetiology of Subdural Haemorrhage
A
Trauma
18
Q
What is the Source and Nature of Bleeding in a Subdural Haemorrhage?
A
Results in bleeding of dural bridging veins.
Can cause low pressure and slower bleed due to venous blood.
Slower bleed = slower rise in ICP
19
Q
Clinical Presentation of Subdural Haemhorrage
A
Onset of symptoms may be days/weeks after injury.
Fluctuating levels of consciousness.
20
Q
Investigation of Subdural Haemorrhage
A
FL: CT head
Chronic (old) bleed appears hypodense (dark) on CT
Concave (crescent-like) appearance that follows the contours of the brain as it is not limited by dural attachments.
Can have midline shift.
21
Q
What is a Subarachnoid Haemorrhage?
A
Haemorrhage into the subarachnoid space between the arachnoid and pia mater.
22
Q
Aetiology of Subarachnoid Haemorrhage
A
Trauma
Aneurysmal rupture e.g berry aneurysm
Arteriovenous malformation
23
Q
What is the Source and Nature of Bleeding in a Subarachnoid Haemorrhage?
A
Rapid bleeding of cerebral arteries
24
Q
Clinical Presentation of Subarachnoid Haemorrhage
A
Sudden onset, severe “thunderclap” headache.
Neck stiffness.
25
Differential Diagnosis for Subarachnoid Hemorrhage
Migraine headache
Meningitis
Ischaemic stroke
26
Investigation of Subarachnoid Haemorrhage
CT head
Acute, hyperdense (white) blood.
Blood is seen in fissures and cisterns giving starfish-like appearance.
27
Complications of Subarachnoid Haemorrhage
Blood in SA space can irritate the meninges.
Irritate the cerebral vessels and can cause vasospasm and hypoxic injury.
Can track back into the ventricular system to cause hydrocephalus.
28
What is an Intracerebral Haemorrhage?
Haemorrhage within the brain parenchyma.
29
Aetiology of Intracerebral Hemorrhages
Aneurysm rupture
Amyloidosis
Arteriovenous malformation
Hypertension
30
Investigation of Intracerebral Haemorrhage
Acute, hyperdense (white) bleeding.
Blood seen in the parenchyma of the brain.
Can cause mass effects e.g midline shift if large enough.
31
What is Meningitis?
Inflammation of the meninges
32
Non-Organismal Aetiology of Meningitis
SLE
Vasculitis
33
Viral Aetiology of Meninigitis
Herpes simplex virus
Varicella zoster virus
Epstein-Barr virus
34
Bacterial aetiology of acute meningitis (regardless of age group)
SHENGL
S.pneumoniae
H.influenzae B
E.coli
N.meningitidis
Group B strep
Listeria monocytogenes - immunocompromised such as newborn, old age, pregnant.
35
Bacterial aetiology of chronic meningitis
M.tuberculosis
Cryptocococcus neoformans fungi
T.pallidum (syphilis)
36
Bacterial aetiology of meningitis in newborns
GEL
Group B strep - can be present in maternal genital tract.
E.coli
L.monocytogenes - IV amoxicillin
37
Bacterial aetiology of meningitis in ages of children (6months-6 years)
NHS
N.meningitidis
H.influenzae B
S.pneumoniae
38
Bacterial aetiology of meningitis in 6-60 years
SN
S.pneumoniae (rarely)
N.meningitidis
39
Bacterial aetiology of meningitis in those above 60
SHNGLE
S pneumoniae
H influenzae type b
N meningitidis
Group B Streptococcus
Listeria monocytogenes
40
Risk Factors for Meninigitis
Immunocompromise
Pregnancy
Old age
Infancy
41
Pathophysiology of Meningitis
Aerosol spread.
Colonises upper RT
Can get into the bloodstream to infect the meninges.
42
Clinical Presentation of Meningitis
Photophobia
Headache
Stiff neck
Non blanching purpuric rash - N.meningitidis
TB Meninigitis
Fever
Night sweats
43
Examination of Meningitis
Kernig's sign - extension of knee while hip is flexed causes pain.
Brudzinski's sign - flexion of neck causes reflex flexion of hip and knee.
44
What is the causative organism of a non-blanching purpuric rash in meningitis?
N.meningitidis
45
Differential Diagnoses of Meningitis
Subarachnoid haemhorrage
Sinusitis
Malaria
Brain abscess
46
Investigation of Meningitis
FBC: leukocytosis
Raised ESR/CRP
GS: Lumbar puncture with CSF culture.
47
What features of the CSF are noted in lumbar puncture when checking for meningitis?
Appearance
Presence of cells
Protein levels
Glucose levels
48
What would be the differnce in CSF appearance of viral vs bacterial vs TB/cryptococal meningitis?
Viral = clear T
B/cryptococcal = fibrin web appearance
Bacterial = cloudy
49
What cells would be present in the CSF in viral vs bacterial vs TB/cryptococal meningitis?
Viral & cryptococcal = lymphocytes
Bacterial = neutrophils
50
What would be levels of protein present in the CSF in viral vs bacterial vs TB/cryptococal meningitis?
High protein in all.
51
What would be levels of glucose present in the CSF in viral vs bacterial vs TB/cryptococal meningitis?
Bacterial and TB/cryptococcal = low
Viral = high
52
Management of Bacterial Meningitis
Empirically: IV cefotaxime/ceftriaxone + IV dexamethasone for swelling
For returning travellers: IV vancomycin to cover drug-resistant strep.
Meningitis is a notifiable disease so call Public Health England.
53
Managment of Meningococcal Meningitis
IM benzylpenicillin
54
What is Encephalitis?
Inflammation of the cerebral cortex
55
Aetiology of Encephalitis
Mainly viral
Herpes simplex
Varicella zoster
HIV
Parvovirus.
56
Clinical Presentation of Encephalitis
Fever
Headache
Lethargy
Confusion
57
Investigations of Encephalitis
Brain MRI
Lumbar puncture + culture, PCR for suspected virus.
Blood serology - raised IgG antibodies against causative viruses.
58
Management of Encephalitis
Empirically: IV acyclovir for HSV/RSV.
59
What is a Transient Ischaemic Attack?
Brief, self-limiting episode of neurological dysfunction caused by cerebral ischaemia without infarction.
60
Clinical Presentation of Transient Ischaemic Attacks
Short-lasting, self-resolving symptoms of stroke.
Specific to TIA: Amaurosis fugax - sudden loss of vision in one eye due to embolus passing through retinal artery.
61
Wht is used to calculate the risk of stroke after a TIA?
ABCD2 score
Age > 60yrs = 1
Blood pressure > 140/90mmHg = 1
Clinical features:
Unilateral weakness = 2
Speech disturbance without weakness = 1
Duration of symptoms:
Symptoms lasting >1hr = 2
Symptoms lasting 10-59mins = 1
Symptoms <10 mins = 0
Diabetes = 1
62
Initial management of TIA
300 mg loading dose aspirin
63
Secondary prevention of TIA
Antiplatelet therapy e.g clopidogrel + statin e.g atorvastatin
64
Types of Strokes
Ischaemic Stroke (80%)
Haemhorragic Stroke (20%)
65
Aetiology of Ischaemic Stroke
Large vessel disease (50%)
Small vessel disease (25%)
Cardioembolic (20%)
Rare causes e.g venous thrombosis, aortic dissection (5%)
66
Aetiology of Haemorrhagic Stroke
Primary intracerebral haemorrhage
Subarachnoid haemorrhage
67
What is an Ischaemic Stroke?
An episode of neurological dysfunction caused by focal cerebral, spinal, or retinal infarction.
68
Pathophysiology of Small Vessel Ischaemic Stroke
Small deep perforator arteries blocked due to microatheroma/lipohyalinosis.
Caused by high blood pressure, diabetes, smoking, age
Can also be known as lacunar stroke.
69
Pathophysiology of Cardioembolic Stroke
Embolus from the heart becoming a thrombus in brain vessels.
Can be caused by AF, endocarditis, atrial septal defect.
70
What is a common cause of stroke in younger patients (<45 years)
Stroke due to aortic dissection
71
What is the difference between subarachnoid/intracerebral haemorrhages and subarachnoid/intracerebral haemorrhagic stroke?
Haemhorragic strokes are not caused by trauma.
72
Risk Factors for Stroke
Increasing age
Smoking
Arrhythmias e.g atrial fibrillation
Infective endocarditis
Obesity
Hypertension
Vasculitis
Ischaemic heart disease
73
What is the initial assessment test used to recognize stroke?
FAST
Facial drooping
Arm weakness
Speech difficulties
Time
74
Clinical Presentation of ACA Stroke
Contralateral lower limb paralysis and sensory loss.
Urinary incontinence
75
Clinical Presentation of MCA Stroke
Contralateral facial and upper limb paralysis and sensory loss.
Facial drooping
Dominant Hemisphere (usually left):
If in dominant hemisphere, can cause Broca’s aphasia.
Dyslexia
Dysgraphia (writing difficulty)
Non-Dominant Hemisphere (Usually right):
Anosognosia - neglect (unawareness) of paralysed limb
76
Clinical Presentation of PCA Stroke
Contralateral homonymous hemianopia
Unilateral headache
77
Clinical Presentation of Cerebellar Artery Stroke
Nausea/vomiting
Vertigo
Unsteadiness
Ataxia
78
Differential Diagnoses for Strokes
Epileptic seizure
Multiple sclerosis
Migraine
Subdural haemorrhage
79
Investigation of Stroke
First line: CT head - can rule out things like haemorrhage and tumours.
Gold standard: MRI brain with diffusion weighted imaging
80
Conservative Management of Ischaemic/Haemhorragic Stroke
Monitor oxygen, blood pressure, glucose and hydration.
81
Management of Ischaemic Stroke
Thrombolysis if within 4.5 hours post symptom onset.
Administer IV alteplase (tissue plasminogen activator)
Thrombectomy - interventional removal of the thrombus
If presenting after 4.5 hours of symptoms/thrombolysis is contraindicated.
82
Management of Haemhorragic Stroke
Reverse any anticoagulation.
Neurosurgery.
83
Secondary Prevention of Stroke
Antiplatelets e.g low dose clopidogrel + statin e.g atorvastatin
84
What are the different types of brain tumours?
Gliomas - glial cells
Meningiomas - meninges
Craniopharyngiomas - sellar region
Schwannoma - nerve myelin
Primary CNS lymphoma - haematopoetic
85
Types of gliomas
Astrocytoma - most common
Oligodendrocytoma
Ependymoma
86
What tumours metastasize to the brain?
Lung (non small cell - most common vs small cell)
Breast
Colorectal
Testicular
Renal cell
Malignant melanoma
87
Grading of Brain Tumours
Graded 1-4
Grade 1: Slow growing, non-malignant, and associated with long-term survival
Grade 2: Have cytological atypia. These tumours are slow growing but recur as higher-grade tumours.
Grade 3: Have anaplasia and mitotic activity. These tumours are malignant
Grade 4: Anaplasia, mitotic activity with microvascular proliferation, and/or necrosis. These tumours reproduce rapidly and are very aggressive malignant tumours.
88
Aetiology/risk factors for Gliomas
Ionising radiation
Family history
Immunosuppression (CNS lymphoma)
Vinyl chloride exposure
89
Clinical Presentation of Brain Tumours
Headache - raised ICP
Seizures - more in low grade tumours
Focal neurological symptoms such as VFDs, limb weakness. - more in high grade tumours
Papilloedema (optic disk swelling due to raised ICP causing venous return obstruction)
Cognitive/behaviour issues.
90
Investigation of Brain Tumours
First line: CT head with contrast
Gold standard: MRI head with contrast and brain biopsy
CT CAP for staging.
91
Management of Gliomas
IV dexamethasone to reduce swelling
FL: Surgical resection
SL: Radiotherapy + early chemotherapy e.g temozolomide
92
Differential Diagnoses for Raised ICP
Hydrocephalus
Gliomas e.g astrocytoma
Meningitis
Subarachnoid haemorrhage
93
What is the Monroe-Kellie Doctrine?
Sum of CSF, blood and brain volume is constant.
94
How does the Monroe-Kellie Doctrine apply to increased CSF pressure?
Intracranial space is a compliant system where increased pressure due to tumour will be compensated by CSF drainage into the spine.
However, there comes a point where no more CSF can be relocated, causing raised ICP and symptoms.
95
Clinical Presentation of Raised ICP
Papilloedema
Headache
Cushing's Triad (response to raised ICP) - bradycardia, irregular respiration and widened pulse pressure (raised systolic, reduced diastolic)
96
Management of Raised ICP
IV mannitol - osmotic diuretic so increased fluid excretion.
Interventional: Lumbar punctures.
97
Types of Generalized Seizures
Tonic-clonic
Myoclonic
Absence
Tonic
Atonic
98
Clinical Presentation of a Tonic-Clonic Seizure
Loss of consciousness
Alternating tonic and clonic phases
Tonic phase - stiffness of limbs
Clonic phase - synchronous jerking of the limbs that slowly becomes less frequent.
Can have incontinence, tongue biting.
Post-ictal confusion, unresponsiveness.
99
Clinical Presentation of a Myoclonic Seizure
No loss of consciousness
Sudden isolated jerk of areas like limbs, trunk.
100
Clinical Presentation of an Absence Seizure
Usually happens in childhood
Ceasing of activity and unresponsiveness for a few seconds.
3 Hz spike and wave activity on EEG.
101
Clinical Presentation of a Tonic Seizure
Sudden increased tone causing stiffness.
102
Clinical Presentation of an Atonic Seizure
Sudden loss of consciousness and muscle tone causing collapse.
103
What is a Focal Seizure?
Starts at a local point in the brain and then spreads towards other regions.
104
Classification of Focal Seizures
Types:
Simple Focal Seizures
Complex Focal Seizures
Location Wise:
Frontal Lobe Seizures
Temporal Love Seizures
Parietal Lobe Seizures
Occipital Lobe Seizures
105
Clinical Presentation of a Simple Focal Seizure
Simple Partial Seizures
Consciousness, memory, awareness intact.
106
Clinical Presentation of a Complex Focal Seizure
Most commonly arise from temporal lobe.
Affects memory/awareness.
Post-ictal confusion.
107
Clinical Presentation of Frontal Lobe Seizure
Can remember series of events
Sporadic movements of upper and lower limbs.
Jacksonian march - seizure progressively goes up/down motor homunculus.
108
Clinical Presentation of Temporal Lobe Seizure
Aura of deja vu, auditory hallucination.
109
Clinical Presentation of Parietal Lobe Seizure
Sensory tingling/numbness
110
Clinical Presentation of Occipital Lobe Seizures
Visual phenomena such as flashing lines, spots.
111
What is Epilepsy?
The recurrent tendency to spontaneous, intermittent, abnormal electrical activity in part of the brain, manifesting in seizures.
Need at least 2 separate seizures to be classified as epilepsy.
112
What is an Epileptic Seizure?
Paroxysmal event in which changes of behaviour, sensation or cognitive processes are caused by excessive, hypersynchronous neuronal discharges in the brain.
113
Clinical Presentation of an Epileptic Seizure
Duration: 30 – 120 seconds
“Positive” ictal symptoms
Negative postictal symptoms.
Stereotypical seizures (in one person, seizures occur in the same way).
May be associated with other brain dysfunction
Typical seizure phenomena: lateral tongue bite, déjà vu etc.
114
What is Status Epilepticus?
Seizures lasting longer than 5 minutes, or 2 or more sezures without reganing consciousness in between.
115
Management of Status Epilepticus
ABC + Supportive therapy
Benzodiazepines (GABA agonist) e.g diazepam, midazolam.
116
Aetiology of Seizures
Head trauma
Brain tumours
Strokes
Dementia
Drugs - SSRIs, lithium
117
Differential Diagnoses for Epilepsy
Syncope
Cataplexy
Benign paroxysmal vertigo
118
What is Syncope?
Paroxysmal event in which changes in behaviour, sensation and cognitive processes are caused by an insufficient blood or oxygen supply to the brain.
Usually occurs when upright.
119
Clinical Presentation of Syncope
Precipitant factors e.g sitting, standing, pain, etc.
Presyncopal symptoms (prodrome) - dizziness, nausea, sweating
Blackout - loss of consciousness, can have jerking or being still.
Recovery - rapid and can have feelings of relief.
120
Types of Syncope
Cardiogenic syncope has less warning and in patients with a PMH of heart disease.
Cough syncope - heavy coughing can reduce venous return to heart.
Carotid sinus syncope - pressure on carotid sinus can cause increased vagal tone and reduced BP.
121
What is a Functional Dissociative Seizure
Paroxysmal event in which changes in behaviour, sensation and cognitive function caused by mental processes triggered by internal/external aversive stimuli.
122
Clinical Presentation of Functional Dissociative Seizure
Duration can be 1-20 minutes
Dramatic asynchronous motor phenomena/thrashing.
Eyes closed
Ictal crying/speaking
Can have PMH of psychiatric illness.
123
Investigation of Seizures
Emergency: CT head to check for trauma, tumours
MRI brain
EEG to help support diagnosis if epilepsy.
124
Management of Generalized Epileptic Seizures (excluding absence seizures)
FL: Oral sodium valproate - increases activity of GABA, inhibitory neurotransmitter.
SL: Oral carbamazepine/lamotrigine if SV containdicated.
125
Management of Absence Seizures
FL: Oral ethosuximide
SL: Sodium valproate/lamotrigine
126
Management of Focal Epileptic Seizures
FL: Oral lamotrigine - Na channel antagonist so prevents depolarization.
SL: Oral carbamazepine
127
Surgical Management of Epileptic Seizures
Lobectomy
Vagal nerve stimulation
128
Pharmacodynamics of Sodium Valproate
Increases activity of GABA, an inhibitory neurotransmitter.
129
Side Effects of Sodium Valproate
Hepatitis, tremor, hair loss.
130
Contraindications of Sodium Valproate
Teratogenic - contraindicated in women of childbearing age.
131
Pharmacodynamics of Carbamazepine and Lamotrigine
Sodium channel blockers - prevents axonal depoarization.
132
Side effects of Lamotrigine
Skin rashes, headache, insomnia.
133
Side effects of Carbamezapine
Ataxia, aplastic anaemia, diplopia.
134
What are examples of traumatic focal lesions of the brain?
Haematoma
Contusions
Lacerations
Infection
135
What are 2 mechanism in which traumatic brain lesions can occur?
Contact damage at the source of traumatic impact
Acceleration-deceleration damage.
136
What is a brain contusion?
Superficial bruises on the brain
137
What is a brain laceration?
A brain contusion significant enough to tear the pia mater.
138
What are examples of traumatic diffuse lesions of the brain?
Diffuse axonal injury
Diffuse vascular injury
Cerebral oedema
Hypoxic ischaemia
Herniation
139
What is diffuse axonal injury?
Widespread axonal damage
140
Aetiology of diffuse axonal injury
Acceleration-deceleration damage.
141
What is diffuse vascular injury of the brain?
Multiple petechial haemorrhages throughout the brain.
142
Types of of traumatic cerebral oedema
Congestive cerebral oedema
Vasogenic cerebral oedema
Cytotoxic cerebral oedema
143
Pathophysiology of congestive cerebral oedema
Vasodilation causes increased cerebral blood volume.
144
Pathophysiology of vasogenic cerebral oedema
Leakage of oedema fluid from damaged blood vessels.
145
Pathophysiology of cytotoxic cerebral oedema
Passage of extracellular fluid into cells like eurons and glia.
146
Complications of diffuse vascular injury and swelling of the brain?
Brain can herniate.
147
Aetiology/risk factors of chronic traumatic encephelopathy
Repeated brain traumtic injury.
Football players, boxers
War veterans.
148
Pathophysiology of chronic traumatic encephalopathy
Progressive amyloid deposition and TBP-43.
149
Clinical presentation of chronic traumatic encephalopathy
Irritability, impulsivity, aggression, memory loss.
Followed by dementia, walking disabilities, parkinsonism.
150
Aetiology/Risk Factors of Parkinson’s Disease
Increasing age
Male gender
Family history
151
Pathophysiology of Parkinson’s Disease
Progressive degeneration of dopaminergic neurons in the substantia nigra pars compacta.
Presence of lewy bodies.
152
Clinical Presentation of Parkinson’s Disease
Triad of bradykinesia, tremor, rigidity.
TRAP
Tremor - pill rolling tremor
Rigidity - cogwheel rigidity
Akinesia/bradykinesia - shuffling gait, assymetrical reduction in arm swing.
Postural impariment - stooped posture
153
Management of Parkinson’s Disease
Synthetic Dopamine e.g Levodopa (L-DOPA)
Dopamine Agonists e.g Ropinirole, pramipexole
Monoamine Oxidase (MAO) Inhibitors e.g Rasagiline, Selegiline
154
Aetiology of Huntington’s Disease
Autosomal dominant trinucleotide repeat of CAG in the huntingtin (HTT) gene on chromosome 4.
155
Pathophysiology of Huntington's Disease
Trinucleotide repeats have anticipation - earlier onset going down generations.
Atrophy of striatum (caudate and putamen) results in decreased GABA and acetylcholine production.
GABA is inhibitory to dopamine release resulting in excessive thalamic stimulation.
156
Clinical Presentation of Huntington’s Disease
ABCD
Abnormal eye movements.
Behavioural changes e.g increased aggression.
Chorea - involuntary jerky movements.
Dysarthria - difficult moving muscles for speech
157
Management of Huntington's Disease
Symptomatic - tetrabenazine/risperidone (dopamine antagonist)
Haloperidol (dopamine receptor antagonist) for psychosis
Can also give diazepam
158
Investigation of Huntington’s Disease
Genetic testing for HTT gene mutation.
159
What are the layers of the cerebellum?
Molecular Layer
Purkinje cell layer - only output of cerebellar cortex.
Granule cell layer
160
What is Ataxia?
Problems with balance and coordination.
161
Inherited Aetiology of Ataxia
Autosomal dominant - SCA 6, EA 2 mutations.
Autosomal recessive - Friedreich's ataxia - most common in UK.
X-linked - Fragile X Tremor Ataxia Syndrome (FXTAS)
Mitochondrial - mDNA mutations
Metabolic - Tay-Sach’s disease
162
Acquired Aetiology of Ataxia
Metabolic - alcohol, b12 folate deficiency, drugs e.g lithium.
Immune mediated - paraneoplastic cerebellar degeneration, coeliac.
Infective - post-infectious cerebellitis
Degenerative - multi-system atrophy cerebellar variant (MSA-C) - hot cross bun sign on MRI.
Structural - tumours, vascular causes.
163
Aetiology of Freidrichsen’s Ataxia
Trinucleotide repeat in frataxin gene on chromosome 9.
164
Clinical Presentation of Freidrichsen’s Ataxia
Cerebellar disease symptoms (DANISH)
High foot arches (pes cavus)
Scoliosis
165
What conditions are Freidrichsen's Ataxia associated with?
Diabetes mellitus
Hypertrophic cardiomyopathy
166
Clinical Presentation of Cerebellar Dysfunction
DANISH
Dysdiadochokinaesia - inability to perform rapid, alternating movements.
Ataxia
Nystagmus
Intention tremor
Speech difficulties
Hyper/hypotonicity
167
Staging of Ataxia
Mild = Independent mobilisation or needs 1 walking aid
Moderate = Needs 2 walking aids/walking frame
Severe = Wheelchair dependent
168
Investigation of Ataxia
Brain MRI
169
Examples of Motor Neuron Disease
Amyotrophic lateral sclerosis - mixture of UMN & LMN degeneration
Primary lateral sclerosis - primarily UMN degeneration
Primary muscular atrophy - primarily LMN degeneration
Progressive bulbar palsy - primarily LMN degeneration
170
Pathophysiology of PLS
Loss of Betz cells in the motor cortex.
171
Pathophysiology of ALS
Familial version can be due to mutation in superoxide dismutase enzyme which causes increased oxidative stress on cells causing loss of function.
172
Common Clinical Presenation of UMND and LMND
Oculomotor nerve (eye movements) and Onuf’s nucleus (rectal and urinary sphincters) are spared.
No sensory symptoms
173
Clinical Presentation of Upper Motor Neuron Disease/Lesion
Contralateral symptoms to lesion.
Increased tone & spasticity (clasp-knife)
Hyperreflexia
Limb weakness
Positive Babinski reflex
Toes curled up
174
Clinical Presentation of Lower Motor Neuron Disease/Lesion
Atrophy, muscle wasting.
Fasciculations - sporadic muscle contractions due to increasing size of motor units causing visible appearance.
Hyporefelxia
Flaccid paralysis of limb.
Negative babinski reflex.
Toes curled down.
175
Clinical Presentation of Progressive Bulbar Palsy
Dysarthria
Dysphasia
Jaw spasms
176
Clinical Presentation of Amyotrophic Lateral Sclerosis (ALS)
UMND + LMND symptoms
Split hand sign - thumb seems adrift due to Increased thenar (thumb) wasting compared to hypothenar (pinky) wasting.
Wrist & foot drop
177
Clinical Presentation of Primary Lateral Sclerosis (PLS)
UMN symptoms with marked leg spasticity.
Progressive tetraparesis (all 4 limb weakness)
178
Clinical Presentation of Primary Muscular Atrophy (PMA)
LMN symptoms
Starts at one limb then spreads
Distal muscles affected before proximal muscles.
179
Management of Motor Neuron Disease
Riluzole - Na channel blocker and glutamate antagonist
Non-invasive ventilation.
180
What is Dementia?
Dementia describes a set of symptoms that may include memory loss and difficulties with thinking, problem-solving or language.
181
Types of Dementia
Alzheimer’s Disease - most common
Frontotemporal dementia
Lewy Body dementia
Vascular dementia
182
Risk Factors for Alzheimer’s Disease
Increasing age
Down’s syndrome
Associated with ApoE proteins.
183
Pathophysiology of Alzheimer’s Disease
Widespread cortical atrophy
Progressive amyloidosis
Formation of neurofibrillary tangles from tau proteins.
Results in Ach deficiency.
184
Clinical Presentation of Alzheimer’s Disease
Episodic memory loss (day-to-day memory loss)
Agnosia - failure to recognize objects, people, places.
Language speaking and understanding difficulties.
Apraxia - cannot carry out skilled motor tasks.
185
Investigation of Alzheimer’s Disease
Brain MRI - cerebral atrophy
186
Management of Alzheimer’s Disease
Acetylcholinesterase inhibitors such as pyridostigmine.
187
Genetic aetiology of frontotemporal dementia
Microtuble associated protein tau (MAPT) mutation on chromosome 17.
188
Pathophysiology of Frontotemporal Dementia
Frontotemporal lobe degeneration and atrophy.
189
What are the 2 Variants of Frontotemporal Dementia? .
Behavioural and Language Variants
190
Clinical Presentation of Language Variant Frontotemporal Dementia
Classifications include:
Semantic Dementia
Primary Non-Fluent Aphasia
Presents with progressive aphasia.
191
Clinical Presentation of Behavioural Variant Frontotemporal Dementia
Can present with behavioural changes e.g apathy
192
Pathophysiology of Vascular Dementia
Results from chronic ischaemia and multiple infarcts.
193
Clinical Presentation of Vascular Dementia
Step-wise cognitive decline
Late onset memory impairment.
Apraxic gait
Urinary incontinence
194
Investigation of Vascular Dementia
Brain MRI: Widespread small vessel disease.
195
Aetiology/Risk Factors for Lewy-Body Dementia
Secondary to Parkinson’s disease
196
Pathophysiology of Lewy-Body Dementia
Presence of alpha synuclein deposits (lewy bodies) on cortex.
197
Clinical Presentation of Lewy-Body Dementia
Hallucinations
Parkinsonism
198
Management of Lewy-Body Dementia
Can be treated with AchE inhibitors e.g pyridostigmine
199
Aetiology/Risk Factors of Multiple Sclerosis
Female at increased risk since autoimmune.
20-40 age
EBV
200
Pathophysiology of Multiple Sclerosis
T-cell mediated autoimmune CNS demyelination.
Targeted towards oligodendocytes.
Demyelinated plaques around the axons result in reduced transmission speed and efficiency.
Regenerated myelin is much less efficient and is temperature affected.
Repeated demyelination can result in axonal scarring (sclerosis).
201
Types of Multiple Sclerosis
Relapsing-Remitting MS
Symptoms occur in attacks followed by periods of remission.
Chronic Progressive MS
Can be primary - worsening progressively from disease onset.
Can be secondary - occuring after relapsing-remitting MS.
202
Clinical Presentation of Multiple Sclerosis
Charcot's neurological triad - dysarthria , nystagmus, intention tremor.
Unilateral optic neuritis - acute painful loss of vision in one eye, worse on movement.
Internuclear opthalmoplegia
Brainstem/cerebellar demyelination - diplopia, vertigo, facial weakness, ataxia.
Spinal cord syndromes - paralysis, parasthesia
203
3 Visual Presentations of Multiple Sclerosis
Unilateral optic neuritis - painful acute loss of vision.
Internuclear opthalmoplegia - adduction impairment of ipsilateral eye and nystagmus of contralateral eye.
Diplopia
204
What are 2 Phoenomena associated with Multiple Sclerosis?
Lhermittes phoenomenon - neck flexion causes shock-like feeling.
Uhthoff's phoenomenon - symptoms worsen with temperature.
205
Investigation of Multiple Sclerosis
GS: MRI brain and spinal cord - disseminated periventricular plaques.
Lumbar puncture - oligoclonal bands, raised IgG and myelin basic protein.
Evoked potentials - conduction delay.
206
Management of Acute Multiple Sclerosis
IV methylprednisolone
207
Mangement of Relapsing-Remitting MS
Relapsing-remitting (2 or more relapses within 2 years)
DMD e.g IM/SC interferon beta 1A or 1B
Natalizumab - prevents T lymphocytes crossing BBB
208
Management of Progressive MS
Biologics e.g ocrelizumab (anti CD20)
209
What are the 3 types of primary headaches?
Migraine
Tension
Cluster
210
Aetiology of Secondary Headaches
Meningitis
Subarachnoid Haemorrhage - thunderclap
GCA - jaw claudication, visual loss.
Idiopathic Intracranial Hypertension - bomiting
Medication Overuse Headache
Pregnancy - venous sinus headache
Glaucoma - red eyes, if exposed in a dark room for extended periods.
211
Clinical Presentation of Migraine Headache
POUND
Photophobia
One-day duration
Unilateral
Nausea
Disabling
Can have preceding aura.
5 instances needed to be diagnosed as migraine.
212
Management of Migraine Headache
NSAIDs/paracetamol + triptans (5-hydroxytryptamine agonists) e.g sumatriptan
Regular migraines - propranolol prophylaxis.
Combined contraceptive pill is contraindicated for migraines.
213
Contraindications of Triptans
IHD
Hypertension
214
Clinical Presentation of Tension Headache
Non pulsating, Bilateral pain
Feeling of tightness around head.
215
Management of Tension Headache
Simple analgesia like aspirin, paracetamol.
216
Clinical Presentation of Multiple Sclerosis
Charcot's neurological triad - diplopia, nystagmus, intention tremor.
Unilateral optic neuritis - acute painful loss of vision in one eye, worse on movement.
Internuclear opthalmoplegia
Brainstem/cerebellar demyelination - diplopia, vertigo, facial weakness, ataxia.
Spinal cord syndromes - paralysis, parasthesia
Lhermittes phoenomenon - neck flexion causes shock-like feeling.
Ursoff's phoenomenon - symptoms worsen with temperature.
217
Clinical Presentation of Cluster Headache
Severe or very severe unilateral orbital, supraorbital and/or temporal pain
Lasting 15-180 minutes if untreated
Headache is accompanied by ipsilateral cranial autonomic features e.g lacrimation, ptosis. and/or a sense of restlessness or agitation
Attacks have a frequency from 1 every other day to 8 per day
Not attributed to another disorder
218
Autonomic Features of Cluster Headache
Ptosis *eyelid drooping)
Lacrimation & conjunctival injection (teary, bloodshot eyes)
Meiosis (pupil dilation)
Rhinorrhea
219
Management of Cluster Headache
Intranasal or subcutaneous triptans e.g sumatriptan
Verapamil prophylaxis.
220
Clinical Presentation of Trigeminal Neuralgia
Unilateral shock-like sensation on face.
Can be triggered by movement such as touching face, brushing, etc.
221
Management of Trigeminal Neuralgia
FL: Oral Carbamazepine - GABA agonist
222
Which Headaches have a Typically Unilateral Presentation?
Migraine
Cluster
Trigeminal Neuralgia
GCA Headache
223
Types of Peripheral Neuropathies
Mononeuropathy - lesion affecting a single nerve.
Mononeuropathy multiplex - lesions affecting several individual nerves.
Polyneuropathy - diffuse symmetrical nerve disease.
224
Aetiology of Mononeuropathy
Carpal tunnel syndrome
Ulnar nerve lesion
Radial nerve lesion
Common peroneal nerve lesion
Tibial nerve lesion
225
Pathophysiology of Carpal Tunnel Syndrome
Compression of median nerve.
226
Clinical Presentation of Carpal Tunnel Syndrome
Aching hand pain especially at night
Paresthesia in index and middle finger and partially thumb, ring finger.
Thenar wasting
Symptoms improved when shaking hand.
227
Examination of Carpal Tunnel Syndrome
Phalen's test - wrist flexion for 1 min = pain, parasthesia in areas innervated by median nerve.
Tinel's test - tapping of transverse carpal ligament = tingling on areas supplied by median nerve.
228
Investigation of Carpal Tunnel Syndrome
Conduction electromyography - can see decreased conduction velocity across median nerve through carpal tunel.
229
Management of Carpal Tunnel Syndrome
Wrist splint + steroid injections.
Definitive - decompression surgery.
230
Clinical Presentation of Ulnar Nerve Lesion
Claw hand - lack of innervation of medial lumbricals
Cannot cross fingers
Hypothenar wasting.
231
Clinical Presentation of Radial Nerve Lesion
Wrist/finger drop
232
Clinical Presentation of Common Peroneal Nerve Lesion
Foot drop - inability to dorsiflex foot.
Raised foot arches
233
Clinical Presentation of Tibial Nerve Lesion
Cannot tiptoe
234
Aetiology of Mononeuropathy Multiplex & Polyneuropathies
WARDS CLID
Wegener’s granulomatosis, polyarteritis nodosa
AIDS/Amyloid
Rheumatoid arthritis
Diabetes mellitus
Sarcoidosis
Charcot-Marie Tooth Syndrome
Leprosy
Inflammatory - GBS
Dietary deficiencies/drugs - vitamin B12, folate, vincristine, cisplatin.
235
Examples of Polyneuropathies
Diabetic Neuropathy
Guillain Barre syndrome
Charcot-Marie Tooth Disease
236
What is Guillain Barre Syndrome?
Acute, inflammatory ascending polyneuropathy that affects the PNS.
237
Risk Factors for GBS
Respiratory/GI infection
Post-pregnancy
238
Infectious Aetiology of GBS
CMV infection
EBV
Campylobacter jejuni
239
Pathophysiology of GBS
Affects Schwann cells.
Pathogen associated molecular mimicry to Schwann cell antigens can cause an autoimmune attack on the Schwann cells causing demyelination.
240
Clinical Presentation of GBS
Follows a GI or respiratory tract infection.
Symmetrical ascending muscle weakness.
Arreflexia.
Limb paralysis
241
Investigation of GBS
GS: Nerve conduction studies.
Lumbar puncture - CSF has high protein.
242
Management of GBS
IV immunoglobulin
Plasma exchange
LMWH heparin e.g enoxaparin for VTE prophylaxis
FVC monitoring - ventilation needed if resp failure.
243
What is Charcot Marie Tooth Syndrome?
Group of hereditary motor and sensory neuropathies
244
What is the Genetic Inheritance of Charcot Marie Tooth Syndrome?
Typically autosomal dominant
245
Clinical Presentation of Charcot Marie Tooth Syndrome
Distal limb wasting and weakness - stork feet.
Foot drop
Hammer toes - toe bend up at middle joint
Pes cavus
246
Aetiology/Risk Factors of Spinal Muscle Atrophy
SMN1 gene mutation.
Affects babies
247
Pathophysiology of Spinal Muscle Atrophy
SMN1 gene mutation causes congenital anterior horn atrophy.
248
Clinical Presentation of Spinal Muscular Atrophy
LMND symptoms - flaccid paralysis, tongue fasciculations.
Symmetrical muscle weakness.
249
Aetiology/Risk Factors of Myasthenia Gravis
Other autoimmune disorders such as DM, hashimoto’s.
Female gender more likely before 40 years.
Associated with thymic hyperplasia/cancer in Men
250
Pathophysiology of Myasthenia Gravis
Autoimmune reaction against nicotinic Ach receptors.
Deposition of anti-acetylcholine receptor antibody complexes and complement proteins on the post-synaptic membrane.
Also presence of anti-muscle specific kinase (MuSK) antibodies - MuSK is a protein involved in synthesis of AchRs.
Results in receptor destruction and lack of cholinergic transmission.
251
Clinical Presentation of Myasthenia Gravis
Muscular weakness - gets worse with use and improves with rest.
Diplopia & ptosis - extra-ocular muscles affected
Dysphagia, speech difficulties.
252
Investigation of Myasthenia Gravis
Serology: Anti-AChR/Anti-MusK antibodies
Electromyography and nerve conduction studies
253
Management of Myasthenia Gravis
FL: Acetylcholinesterase inhibitors e.g oral pyridostigmine.
SL: Steroids e.g oral prednisolone.
254
Aetiology of Lambert-Eaton Syndrome
Associated with small cell carcinoma of the lung
255
Pathophysiology of Lambert-Eaton Syndrome
Presence of pre-synaptic Ca channel antibodies.
256
Clinical Presentation of Lambert-Eaton Syndrome
Limb weakness that improves with muscle use
Affects extremities first
Symptoms do not improve with pyridostigmine administration.
257
Management of Lamber Eaton Syndrome
Prednisolone + IV immunoglobulins
258
Aetiology of Duchenne’s Muscular Dystrophy
X-linked mutation in dystrophin gene.
259
Clinical Presentation of Duchenne’s Muscular Dystrophy
Gowers sign - difficulty so usage of upper extremities to help get up.
Calf muscle hypertrophy - waddling gait.
Initial pelvic girdle muscle weakness that progresses superiorly.
260
Complications of Duchenne’s Muscular Dystrophy
Dilated cardiomyopathy if before 5 years of age.
261
What is a Tremor?
Involuntary, rhythmic oscillatory movement of a body part.
262
Aetiology of Tremors
Physiological - anxiety, excitement, etc.
Drugs/toxins e.g alcohol, coffee
Metabolic - hyperthyroidism
Essential/resting tremors - Parkinson’s
Dystonic tremor
Functional tremor
263
Clinical Presentation of Essential Tremor
Occurs upon movement/actions e.g lifting a cup.
Does not occur when at rest.
Responds to alcohol.
Is symmetrical
264
Management of Essential Tremor
Anti-epileptics e.g primidone, gabapentin (CCB)
Beta blockers e.g propanolol.
265
Clinical Presentation of Dystonic Tremor
Relatively similar to essential tremor.
More jerky movements
Variable axis - can be jerks in any direction.
Can be task specific such as writing
266
Clinical Presentation of Functional Tremor
Distractibility - tremor increases when attention is paid to it.
Entrainability - tremor can synchronize with movement of another body part.
Whack-a-mole sign where there is systemic spreading of the tremor based on where examinations are done/attention is given.
Little finger of one hand is hyperextended.
267
Clinical Presentation of Dystonia
Sustained or intermittent muscle contractions.
Worsened by voluntary actions and muscle overflow.
Can be specific to certain actions e.g running, playing guitar, etc.
Geste antagoniste - Certain actions or thinking of actions can settle the spasms
Lower limb dystonia is usually in those <21 years old.
268
Features of Functional Dystonia
Functional Dystonia
Fixed limb at onset
Dystonia resistant to manipulation
Atypical botox response.
Pain - can follow minor injury.
Asymmetric facial spasms - cranial functional dystonia.
269
Clinical Presentation of Chorea
Sudden irregular, flowing, variable movement.
People can be fidgety, clumsiness
270
Aetiology of Chorea
Huntington’s chorea
SLE
Infections - HIV
Hyperthyroidism
271
Clinical Presentation of Tics & Tourette's Syndrome
Have a premonitory urge
Can be suppressed
Echolalia/echopraxia - copying what people say/do
Coprolalia/praxia - using obscene language/actions.
272
Clinical Presentation of Functional Tics
Explosive onset
No premonitory urge
Not suppressible
Occurs at adolescence or later.
273
Clinical Presentation of Myoclonus
Sudden, brief uncontrolled muscle contraction.
274
Aetiology of Myoclonus
Physiological - hiccup, hypnic jerk when drifting off
Cortical - epilepsy (Fastest, distal muscles affected)
Subcortical - brainstem lesions (bilateral, synchronous, proximal muscles affected)
275
Aetiology of Cauda Equina Syndrome
Lumbar disc herniation
Spinal tumour
276
Clinical Presentation of Cauda Equina Syndrome
LMN lesion symptoms e.g hyporeflexia, flaccid paralysis.
Lower back pain, sciatica
Sphincter and urinary incontinence
Saddle anaesthesia - loss of peri-anal sensation.
277
Investigation of Cauda Equina Syndrome
MRI spinal cord
278
Management of Cauda Equina Syndrome
Neurosurgery
279
Aetiology of Transverse Myelitis
SLE
EBV
MS
280
Pathophysiology of Transverse Myelitis
Inflammation of the spinal cord causing swelling and loss of function of whole cross-section of the cord.
281
Clinical Presentation of Transverse Myelitis
Progressive leg weakness
UMN injury signs e.g hyperreflexia,
Sensory loss below lesion
282
Investigation of Transverse Myelitis
MRI spinal cord
283
Management of Transverse Myelitis
Treat underlying cause
Steroids e.g prednisolone.
284
Aetiology of Wernicke’s Encephalopathy
Vitamin B1 (thiamine) deficiency
Chronic alcoholism
285
Pathophysiology of Wernicke’s Encephalopathy
Alcohol prevents phosphorylation of thiamine into it's active form.
Alcoholic steatohepatitis can interfere with thiamine storage causing deficiency.
Thiamine is needed for ATP production within the brain through glucose/fatty acid metabolism.
286
Clinical Presentation of Wernicke’s Encephalopathy
Ataxia
Confusion
Opthalmoplagia - weakness of eye muscles.
287
Investigation of Wernicke's Encephalopathy
FBC: Non-megaloblastic macrocytic anaemia if alcohol.
Can have deranged LFTS
288
Management of Wernicke’s Encephalopathy
IV thiamine infusion, can be given with glucose.
In diabetic patients, normalise the thiamine first as lack of thiamine pyrophosphate can cause lactic acidosis.
289
Complication of Wernicke’s Encephalopathy
Korsakoff’s syndrome
Presents with amnesia (anterograde and retrograde)
Confabulation - fabrication of stories to fill in memory gaps.
