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17 Cards in this Set
- Front
- Back
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Wilson's disease |
AR defect in copper transporter age usually less then 40yrs symptoms: dysarthria, gait changes, tremor, dystonia, parkinsonism symptoms: psychiatric and/or dementia TX: low copper diet, penicillamine good prognosis if treated early |
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Wilson's disease diagnosis |
24 hr urine for copper highest sensitivity Serum ceruloplasmin 90% sensitive not great Kayser-Fleischer ring around iris Brain MRI especially if neuropsychiatric symptoms present may see Panda sign (deposition of copper in basal ganglia) |
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Dopa-responsive dystonia |
usualy child or young adult with twisted foot, gait abnormality ( may be diagnosed has CP) may be fine in am but especialy *worse in the evening* Tx: Low dose of L-Dopa Prognosis is great if treated |
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Epidemiology of parkinson's |
1.5million americans mean onset 60y/o 1% to 2% of people over 60 have PD <40 is early onset <20 is juvenile onset it usually idopatic |
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Parkinson's genetics |
Dominant inheritance: LRRK2 gene most common typical late onset, SNCA (alpha synuclein) rare, younger Recessive inheritance: PARK2 (parkin) young onset, good L-dopa response, absence of lewy bodies, also PINK1, DJ1 gene |
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Pathology of Parkinson's |
-Substantia nigra degeneration->dopamine deficiency in straitum(caudate and putamen) ->motor symptoms -Lewy bodies(aggregates of alpha synuclein, ubiquitin, neurofilament protien, accumulate in cells) -starts caudal and progress rostrally -Note: Monoaminergic nuclei like Locus coeruleus, and dorsal raphe also degenerate |
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Motor features of parkinson's |
Bradykinesia Tremor Rigidity Postural instability Note: in pure PD there is no weakness, ataxia, spasticity or reflex changes |
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Non motor features of parkinson's |
REM beh disorder daytime sleepiness Anosmia Autonomic dysfunction Depression and anxiety 2nd to dorsal raphe and locus coeruleus atrophy fatigue pain and sensory symptoms cognitive impairment an dementia |
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Medication overview for PD |
L-dopa with carbidopa most effective Dopamine agonist like ropinirole, pramipexole, rotigotine, apomorphine Anicholinergic (tihexyphenidyl, benztropine) help mainly with Tremor and rigidity MAO-B inhibitors selegiline adn rasagiline Amantadine |
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L-Dopa (levodopa) |
Helps-Bradykinesia, rigidity, tremor, gait great for initial therapy Carbidopa help inh peripheral of levodopa COMT inh (entacapone) improved bioavialability Side effects: N/V, diskenisia (choreoathetiod or stereotypic movement) vivid dreams, illusions, hallucinations, dizziness, hypotension, somnolence(but pt that are more proned to it like older, demented pts) |
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Dopamine agonist for PD |
Rotigotine, apomorphine, ropinirole, pramipexole less likely to cause dyskinesias then L-dopa more proned to cause hallucination and nausea *sleep attacks *Orthostasis, leg edema *compulsive behavior (gambling, sexual) |
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functional neurosurgery for PD |
Lesioning: thalamotomy, Pallidotomy DPS: Thalamic DBS, Pallidal DBS, Subthalamic DBS |
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DBS for parkinson's |
prolongs best dyskinesias free ON state Contraindications: severe psych dx, cognitive impairment, postural instability, falls(DBS can worsen these) |
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Parkinson's plus degeneration |
-Lewy body dementia dementia and parkinsonism occur within a year of each other -Multiple system Atrophy: parkinson's, + early autonomic problems, ataxia -Progressive supranuclear palsy: symmetric parkinsonism, plus early postural instability, falls, *impaired vertical eye movement -Corticobasal degeneration: parkinson's, plus asymmetric limb dystonia and apraxia (can do learned movement like show peace sign but cant, may have alien hand syndrome |
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Cause of Chorea |
Huntington's dx # 1 cause L-dopa dyskinesias sydenham chorea in children (post group a strep) Stimulants (cocaine (crack dancing), Amphetamines) Tardive Chorea Basal ganglia lesion (hemichorea/hemiballismus in stroke) infections(HIV) Wilson's disease, hyperthyroidism |
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Essential Tremor |
Most common tremor dominantly inherited more with inc. in age shaky hands, sometimes head, voice writing is shaky, spill drinks or food does not increase mortality Rx: Propranolol, primidone Thalamic DBS if refractory and disabling |
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Copper deficiency may mimic what? |
may mimic subacute combined degeneration. It is most commonly seen in patients who are status post gastric bypass, but can also be seen in those taking excessive amounts of zinc (zinc and copper are absorbed via the same transporter). |
