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Me d Ed Y3 Wri tte n Exa m L e ct ure s 2 02 5 Liz z ie Varaksin a | ev3 21@ic. ac . uk Chronic Neurology L EC T U R E OV E RV I E W : C HRO NI C NE U RO LO GY CONDIT IONS : 1.Multiple Sclerosis 2.Myasthenia Gravis 3.Motor Neurone Disease 4.Parkinson’s Disease 5.Essential tremor (Benign essential tremor) 6.Chronic fatigue syndrome 7.Huntington’s Disease 8.Dementia (Alzheimer’s, Lewy body, Frontotemporal, Vascular Disease) 9.Wernicke’s encephalopathy M U LT IPL E S C L ER O S IS : Definition: • Autoimmune • DEMYELINATION OF CNS ⚬ abnormal / spontaneous excitability of neurons Sensory symptoms: • PAREASTHESIA ⚬ LHERMITTE’S SYNDROME (on neck flexion) • Trigeminal neuralgia sexual dysfn Bismillah AN, Stephen. Holding yournerve in academia whilst managingmultiple sclerosis. Nature ReviewsChemistry. 2024 Oct 25;8(11):793–4. M U LT IPL E S C L ER O S IS : Definition: • Autoimmune • DEMYELINATION OF CNS ⚬ abnormal / spontaneous excitability of neurons Sensory symptoms: • PAREASTHESIA ⚬ LHERMITTE’S SYNDROME (on neck flexion) • Trigeminal neuralgiaM U LT IPL E S C L ER O S IS : RELAPSING-REMITTING SECONDARYPROGRESSIVE PRIMARY PROGRESSIVE • most common • 65% of patients will go on to develop secondary progressive disease within 15 yearsof diagnosisM U LT IPL E S C L ER O S IS : PAT IE N T C A S E Perfect patient: MISS Andersen • 35 years old (typically presents between 20-40) • woman (3x more common in female sex) • Norwegian (more common in northern Uhtoff’s phenomenon: climates) • triggered by ↑in body temp ⚬ after bath ⚬ exercise • PC: painful eye movements (optic neuritis) after Optic neuritis (central scotoma) taking a bath yesterday • HPC: episode of paraesthesia in left lower limb 2-3/12 ago • FLAWS: lethargy!!!M U LT IPL E S C L ER O S IS : PAT IE N T C A S E INVESTIGATIONS MRI: *** • Lesionsdisseminated in space and time (2> episodes) • ↑signal T2 FLAIR • Dawson’s fingers LP: • oligoclonalbands (IgG intrathecal) INDICATIONS: • 2 RELAPSES PAST 2 YEARS M U LT IPL E S C L ER O S IS : PAT IE N T C A S E ⚬ Relapsing-remitting+ able to walk 100munaided ⚬ Secondary progressive disease + able TREATMENT to walk 10m(aided or unaided) ACUTE CHRONIC • ↑dose steroids (PO / IV • NATALIZUMAB (BBB, alpha-4 beta-1-integrin on methylpred) luekocytes) • OCRELIZUMAB (anti-CD20) fatigue → amantidine spasticity → gabapentin, baclofen oscillopsia → gabapentinM YA ST H EN IA GR AV IS -> ACh-R antibodies!!! (NMJ affected) ⚬ muscle fatiguability! sx worse throughout the day • diplopia, ptosis • drooping of the eyebrow/ corner of mouth • smoothing of the forehead • dysphagia • prox musce weakness (neck, limb girdle)M YA ST H EN IA GR AV IS INVESTIGATIONS: Bts: • ACh ab! / Anti-muscle-specific tyrosine kinase ab! • CKnorm SFEMG CTthorax to exclude thymoma ↑risk of thymomas (thymic TREATMENT: hyperplasia common) • PYRIDOSTIGMINE (long acting ACh-esterase inhibitor) ^ CT AT DIAGNOSIS →THYMECTOMY IF INDICATED • PRED → azathioprine, cyclosporine, mycophenolate mofetil in later stages MYASTHENIC CRISIS = PLASMAPHERSIS + IVIGM N D - QU IC K UM N /L M N L ES IO N REC A P (flaccidity) fasciculations Clinical diagnosis (nerve conduction normal, MRI to exclude M N D • pure weakness with intact sensation (no sensory deficits in MND!) other conditions,EMG reduced APs with ↑amplitude) AM YOT RO PH IC L AT. S C L . PRO G M US C ATRO P HY *Riluzole (reduces glutamate • LMN only → distal first, then proximal activation) • LMN arms (flacid, wasting of hand, fasciculations, hyporeflexive) • UMN legs (spastic, hyperreflexive) • asymmetric weakness PR I M A RY L AT E RA L S C L . PRO G B U L BAR AT RO PH Y • UMN only • tongue, muscles of mastication and facial muscles wasting of the tongue, - brainstem motor nucleiM N D • pure weakness with intact sensation (no sensory deficits in MND!)C A GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G H U N TI N GTO N ’ S C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A GC A G C AG CA G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A GC A G C AG CA G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A GC A G C AG CA TRINUCLEOTIDE DISORDER → HUNTINGTIN GENE CHROMOSOME 4 CAGC AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C A REPEATS (auto dom) (>40) C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C A C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C A C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CA G CA G CA G CA GC A G C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G C C AG CA G CA G CA G CA G CA G CA GC A GC A GC A GC AG C AG C AG CA G CA G CH U N TI N GTO N ’ S striatum (putamen and caudate nuclei) saccadic eyemovements dystonia DE M E N T IA L E W Y B O DY AL Z H E IM E RS • alpha-synuclein cytoplasmic inclusions VA S C U L A R (Lewy bodies,Lewy neurites) in the • stepwise deterioration • loss of cholinergic neurons → substantia nigra, paralimbic and neocortical • NINDS-AIREN criteria for diagnosis synaptic loss and neuronal areas degeneration • Ass.w/ Parkinson’s (onset 1y earleir) Stroke-related VD - multi-infarct or single-infarct • amyloid beta plaque • Lilliputian hallucinations dementia • DAT scan (SPECT) accumulation • tau phosphorylation → NFTs in nucleus accumbens Subcortical VD - caused by small vessel disease F RO N TAL • APOE, APP (chrom 21), Presenilin 1 /2 (chrom 14 /1) T EM PO RA L • Pick bodies (tau) Mixed dementia - the presence of both VD and 1.ACh-erase inhibitors (donepezil,galantamine and • personality changes, impaired Alzheimer's disease rivastigmine) 2.Memantine social conductC H RO N IC FATIG U E S YN D RO M E Case study: MRS JAMES • 45yo • sx persist for 3 /12 • affecting metnal and physical health, present over 50% time • PC: 3/12hx of sleep problems, joint pains • headaches, feeling low most of the time • HPC: no recent infection but feels like ill all the time - sore throat, dizzy, tired and nauseous • No sig PMH O/E: pain on lymph node palpation INVESTIGATIONS Bts: • wide screen - FBC, U&E, LFTs, TFT, calcium, coeliac, CRP, ESR, glucose, ferritin TREATMENT: • supportive → referral to CFS clinic, CBT *dopaminergic neurons in substantia nigra T RE M O R PA RK IN SO N ’ S ES S E N T I A L • Resting pill-rolling tremor, asymmetric • Postural tremor: exacerbated • Bradykinesia by movement • Rigidity (cogwheel) (leadpipe) • Improved by alcohol and rest • Shuffling gait • Micrographia • Titubation (head tremor) • FH • 'Mask-like' face • Overlaps with dementia and depression • REM sleep behaviour TREATMENT: • levodopa if interfering with QoL (more motor complications) • otherwise dop agonists (higher risk of impulse control disorder), MAO-B inhibitiors, or levodopa TREATMENT: ⚬ levodopa often given with carbidopa to stop metabolismof peripheral levodopa dopamine • PROPRANOLOL!W E RN I C KE ’ S EN C EPH E N C E PH ALO PAT H Y O PH TA L MO PL EG IA ATAX IAW E RN I C KE ’ S - KO RSA KO F F SY N D RO M E ENC EPH ALOPATHY RETROGRAD E AND THIAMINE DEFICIENCY CONFABUL ATIONS ANTEROGRADE (VIT B1) → GIVE IV AM NESI A PABRINEX (VIT B REPLACEMENT) OPHTAL MOPLEGIA ATAXI A SBA 1 A 28 year old Norwegian woman presents to A&E after she was unable to fell the hot water on her left leg whilst taking a bath. CSF analysis demonstrated oligoclonal bands that were unmatched with the serum. Which of the following would most likely confirm a diagnosis of Multiple Sclerosis? 1. Multiple lesions on MRI that all enhanced with gadolinium The patient’s symptoms reoccur 1 year later 2. 3. The patient develops blurry vision in one eye a year later 4. The patient reports blurry vision currently 5. 1 year follow up finds oligoclonal bands matched with the serum SBA 1 A 28 year old Norwegian woman presents to A&E after she was unable to fell the hot water on her left leg whilst taking a bath. CSF analysis demonstrated oligoclonal bands that were unmatched with the serum. Which of the following would most likely confirm a diagnosis of Multiple Sclerosis? 1. Multiple lesions on MRI that all enhanced with gadolinium The patient’s symptoms reoccur 1 year later 2. 3. The patient develops blurry vision in one eye a year later 4. The patient reports blurry vision currently 5. 1 year follow up finds oligoclonal bands matched with the serum SBA 2 A 40 year old woman visits her GP complaining of tiredness. On questioning, She often has to stop what she is doing to regain her energy. The GP asks her to look upwards, and after a few seconds she begins to develop ptosis. What is the patient most likely to have? 1. Lambert-Eaton Myasthenic Syndrome 2. Thymic hyperplasia 3. Anti-MuSK antibodies 4. No auto-antibodies Non-malignant thymoma 5. SBA 2 A 40 year old woman visits her GP complaining of tiredness. On questioning, She often has to stop what she is doing to regain her energy. The GP asks her to look upwards, and after a few seconds she begins to develop ptosis. What is the patient most likely to have? 1. Lambert-Eaton Myasthenic Syndrome 2. Thymic hyperplasia 3. Anti-MuSK antibodies 4. No auto-antibodies Non-malignant thymoma 5. SBA 3 A 70 year man is referred to a ne. The referral letter notes activities like cooking dinner, finding he struggles to initiate movement. The letter also notes that the patient has a resting tremor and rigid upper arms. When the neurologist calls the patient into the room, what gait does he expect the patient to most likely have? 1. •Ataxic 2. •Hemiplegic 3. •Shuffling •Scissor 4. •Choreiform 5. SBA 3 A 70 year man is referred to a . The referral letter notes activities like cooking dinner, finding he struggles to initiate movement. The letter also notes that the patient has a resting tremor and rigid upper arms. When the neurologist calls the patient into the room, what gait does he expect the patient to most likely have? 1. •Ataxic 2. •Hemiplegic •Shuffling 3. •Scissor 4. •Choreiform 5. SBA 4 A 40 year old man starts to make random jerky movements at points throughout the day. Worried about this, he visits his in his 40s, but he was too young to remember why, althoughed he did have similar symptoms. What test should be arranged? 1. •FBC 2. •Karyotyping 3. •Whole genome sequencing 4. •CAG repeat testing 5. •MRI head SBA 4 A 40 year old man starts to make random jerky movements at points throughout the day. Worried about this, he visits his in his 40s, but he was too young to remember why, althoughed he did have similar symptoms. What test should be arranged? 1. •FBC 2. •Karyotyping 3. •Whole genome sequencing 4. •CAG repeat testing 5. •MRI head SBA 5 A 55 year old gentleman is accompanied to the GP by his daughter. She is distressed that ‘something’s happened to Dad, he’s changed …’. It transpires that he has started swearing at people in the street and flirting with all the women he meets. He is able to chat to you about current events and his favourite sport team’s latest match. What is the most likely diagnosis? 1. •Pick’s disease 2. •Lewy body dementia 3. •Vascular dementia 4. •Alzheimer’s dementia •Wernicke-Korsakoff syndrome 5. SBA 5 A 55 year old gentleman is accompanied to the GP by his daughter. She is distressed that ‘something’s happened to Dad, he’s changed …’. It transpires that he has started swearing at people in the street and flirting with all the women he meets. He is able to chat to you about current events and his favourite sport team’s latest match. What is the most likely diagnosis? 1. •Pick’s disease 2. •Lewy body dementia 3. •Vascular dementia 4. •Alzheimer’s dementia •Wernicke-Korsakoff syndrome 5.T HA N K YO U ! REACH OUT I F YOU H AV E AN Y QU ESTIONS :) E-mail ev321@ic.ac.uk Phone 07767120396