gg bazali pt stud
DESCRIPTION
neuro eliasTRANSCRIPT
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Sistemul ganglionilor bazali(striat, extrapiramidal)
Semiologie
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Anatomie
• Caudat + putamen = striat• glob palid int + ext• nc subtalamic• subst neagra:pars reticulata, pars compacta
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Calea excitatorie
• cale directa (D1)• descarcari
intermitente> activitate de tip fazic, cu durata scurta
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Calea inhibitorie
• cale indirecta (D2)• activtate proprie,
ritmica, tonica
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Functiile ganglionilor bazali
• Modularea sistemelor motorii - aria motorie suplimentara– programele miscarilor fine (scris)– program miscare repetitiva (locomotie)– miscarile sacadate ale globilor oculari
• Conexiune prefrontala– comportament– memoria somato-spatiala
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Clinic
• 1.Deficit motor>NU• 2.Perturbari ale calitatii actului motor: h-, a- sau H-
kinezie• 3.Tonusul muscular: crescut>rigiditate, scazut>hipotonie,
alternanta h/H-tonie=paratonie)• 4.Reflexele: ROT, spf nu sunt modificate; de
postura:exagerate; patologice/rfx de linie mediana>prezente)
• 5.Miscari involuntare: distonie, atetoza, coree, miscare balica, tremor, diskinezii, mioclonii
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Sindroamele striate
• Paleostriat (parkinsonian): hipokinezie + hipertonie
• Neostriat (coreic): hiperkinezie + hipotonie
• Panstriat (boala Wilson) : combinatie
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Patogenia tulburarilor extrapiramidale
• distrugerea neuronilor dintr-o anume structura>> boala neurodegenerativa (boala Parkinson, coreea Huntigton)
• activitate sinaptica anormala cu neuroni normali(sinteza mitocondriala anormala, receptori anormali, metabolismul receptorilor perturbat prin anomalii enzimatice)>>boala neurochimica (distonii neuromusculare primare)
• leziuni dobandite, in care tulburarile extrapiramidale se asociaza cu alte semne neurologice
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Sindromul parkinsonian (paleostriat)
Parkinsonism
Primar(degenerare neuronala)
Secundar(toxic, postencefalita, postraumatic,
vascular, paraneoplazic etc.)
Parkinsonism Atipic Boala Parkinson (BP)
Nediagnosticat Diagnosticat-PSP -AMS-DCB-B. corpi Lewy
Idiopatica Mostenita (5–15%)- recesiv- dominant
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Date de epidemiologie a bolii Parkinson
Prevalenta • > 4 millioane de persoane in intreaga lume• aprox 70.000 in Romania • 1% la 65 ani, 3,5% la 85 ani• Pana in 2040 se asteapta ca prevalenta bolii Parkinson sa
creasca de 4 ori datorita imbatranirii populatiei
Incidenta• 11/100.000 populatia generala• 50/100.000 peste 50 ani• Varsta medie de debut: 62 ani• 4-10% sub 40 ani
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Patogenia bolii Parkinson
Degenerare neuronala progresiva a SNC– Trunchi cerebral -> SN pars compacta, ggl bazali
Alterari structurale proteine celulare
Factori genetici• sugerat de agregarea familiala a bolii ce creste riscul de
aparitiei a bolii de 3 ori .• 13 gene implicate in determinismul bolii
– Parkin (responsabila de aproximativ 50% dintre cazurile de boala cu debut precoce, sub 40 de ani),
– LRRK2.
Factorii de mediu - determinism multifactorial– Favorizanti: pesticide, apa, etc – Defavorizante: fumat, consumul de cafea cu continut scazut de
cofeina
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Patogenia bolii Parkinson
• Stresul oxidativ (molecule cu greutate crescuta sensibile -proteine, lipide, ac nucleici)
• Disfunctia sistemului proteosomic • Disfunctia si injuria mitocondriala (MPTP)• Excitotoxicitatea• Inflamatia
consecinta – apoptoza neuronala
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Patogenia bolii Parkinson
• Neuronii degenerati contin incluzii eosinofilice (corpi Lewy)
• Proliferare neurogliala
• Corpii Lewy sunt constituiti predominant din material filamentos (neurofilamente) circular/liniar dispus ce are asociat α-synucleina
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Procesele patologice din boala Parkinson
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Patologie - Clinica
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Suspiciunea diagnosticului
• Facies inexpresiv, clipit rar• Mers cu paşi mici, afectarea posturii (flexie anterioara)• Reducerea balansului bratului in timpul mersului• Voalarea vocii• Hiposmie (diminuarea olfactiei)• Micrografie (scris de mână mic,contractat)• Dificultăţi în activitatea cotidiană• Dispozitie trista, insomnie
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Semnele cardinale
• Hipo / bradikinezie = miscari initiate greu, cu amplitudine redusa, lente
• Rigiditate musculara = musculatura cu tonus crescut, opune rezistenta la mobilizarea pasiva
• Tremor = de repaos, 4-7 c/s, membre +/- barbie• Instabilitate posturala = postura anteflectata,
blocaj, caderi frecvente
Debut unilateral!
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Boala ParkinsonTremor Bradikinezie Rigiditate Instabilitate
posturală
Facies inexpresivMers cu paşi mici, afectarea posturiiDificultăţi în activitatea cotidianăVoalarea vociiMicrografie (= scris de mână mic,contractat)
DisfagieConstipaţieHipersalivaţieControl dificil al micţiuniiAlte simptome, de ex. fatigabilitate, durere
DepresieAnxietateDemenţăConfuzie şi halucinaţii
Bradipsihie (=lentoare a gândirii)
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Diagnostic boala ParkinsonBradikinezie + unul din - rigiditate
- tremor 4-7 Hz - postura
• Criterii de sustinere
– Debut unilateral
– Tremor de repaus
– Evolutivitate
– Asimetrie persistenta
– Raspuns la l-dopa
– Coree indusa de l-dopa
– Raspuns la l-dopa cel putin 5 ani
– Evolutie de cel putin 10 ani
• Criterii de excludere– Avc repetate cu sdr park evolutiv– Istoric de TCC repetate– Istoric de encefalita– Crize oculogire– Trat neuroleptic la debut
simptomatologiei– Remisiune sustinuta– Unilateral>3 ani– Paralizia supranucleara a privirii– Semne cerebeloase– Afect vegeativa precoce severa– Dementa severa– Babinski prezent– CT-tumora/hidrocefalie– Rasp neg la l-dopa doza mare– Expunere MPTP
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Diagnostic paraclinic
• PET -- aferente striatale dopaminergice (18 -fluorDopa)
• SPECT --receptorilor de dopamina (β-CIT) Nu este de rutina!
• CT/RMN -- necaracteristic
• TCCD -- in curs de evaluare
• Laborator -- necaracteristic
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BP primara / Parkinsonism
Parkinsonism plus (atipic)• Parkinsonism din alte boli heredodegenerative
Parkinsonism secundar:• Toxic: monoxid carbon, mangan• Medicamentos: neuroleptice, antidepresive,
antiemetice, rezerpina, VPA, blocanti C Ca• Asociat bolii vasculare• Boli infectioase: encefalita, SIDA, Creutzfeld-
Jakob
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Sindromul parkinsonian (paleostriat)
Parkinsonism
Primar(degenerare neuronala)
Secundar(toxic, postencefalita, postraumatic,
vascular, paraneoplazic etc.)
Parkinsonism Atipic Boala Parkinson (BP)
Nediagnosticat Diagnosticat-PSP -AMS-DCB-B. corpi Lewy
Idiopatica Mostenita (5–15%)- recesiv- dominant
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Principii de tratament
• Produsul recomandat
• Numarul de prize
• Orarul administrarii
• Complianta
• Interferenta cu alte patologii / medicatii (B-bloc, vit B)
• Tolerabilitate (r adv)
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Tratamentul bolii ParkinsonLevodopa (împreună cu DDCI*) : L-Dopa + carbidopa (Nakom), L-Dopa + Benserazida (Madopar_)
Inhibitori de catecol-O-metil transferază (ICOMT): Entacapone (Comtan)
Levodopa + ICOMT (Stalevo)
Agonişti de receptori de dopamină (AD): Pramipexol (Mirapexin), Ropinirol (Requip)
Anticolinergice: Trihexifenidil (Romparkin), Biperiden (Akineton)
Amantadina (efect dopaminergic): Viregyt
Inhibitori de monoaminooxidază-B (MAO-B) (împiedică degradarea dopaminei): Rasagilina (Azilect), Selegilina (Selegos)
* Dopa-Decarboxilază-Inhibitor: carbidopa sau benserazidă;
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Caracteristicile clinice ale levodopa
• „Standardul de aur” în tratamentul simptomatic al boliiParkinson
• Substituent indirect al dopaminei(bariera hemato-encefalică)
• agonist al tuturor receptorilor D
• De obicei este introdusă după 1-3 ani de la diagnosticareabolii Parkinson
• Unele simptome răspund mai greu la tratament: blocajul,instabilitatea posturala, tulburarile vegetative, afective,cognitive
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Complicatiile tratamentului cu levodopa
•DA periferica–gastro-intestinale–cardio-vasculare
•DA centrala–fluctuatii motorii si non-motorii: wearing-off, on-off, delayed-on, no-on–diskinezii: de varf de doza, difazice, distonia off–tulburari psihiatrice: tulburari somn (ritm circadian, cosmaruri), halucinatii, atacuri de panica, dementa
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Complicatiile tratamentului cu levodopa
DA periferica• Cardiovasculare
– hipotensiune ortostatica (rar HTA)– aritmie extrasistolica a/v
• digestive– greata, varsaturi, anorexie– dureri abdominale, constipatie, diaree– disfagie, hemoragii gastro-intestinale
• urinare– poliurie, disurie, incontinenta urinara
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Agonistii dopaminergici
• intarzie introducerea L-Dopa
• asociere: reducerea dozelor de L-Dopa
• T1/2 lung (6-12 h): evita stimularea pulsatila
• efecte neuroprotectoare (?)
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Terapia chirurgicala
• Interventii lezionale• Palidotomii• Stereotaxic (Nc. subtalamic)
• Stimulare profunda intracerebrala (DBS)
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Evolutia BP
Manifestari motorii• Rigiditate progresiva - imobilizare• Akinezie• Blocaj motor, caderi frecvente• Mers cu sprijin • Tremor de repaos si actiune• Dizartrie severa + hipofonie = vorbire
neinteligibila
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Evolutia BP
Manifestari disautonome• Disfagie• Constipaţie• Hipersalivaţie• Control dificil al micţiunii
Alte simptome• fatigabilitate • durere
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Evolutia BP
Manifestari psihice• Depresie• Anxietate• Demenţă• Confuzie şi halucinaţii• Bradipsihie (lentoare a gândirii)• Tulburari de somn• Tulburari comportament (rel cu tratamentul)
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Consilierea pacientului si familiei
• Evolutie si prognostic, necesitatea tratamentului
• Facilitati la domiciliu• Continuarea activitatilor profesionale si
sociale• Gimnastica, psihoterapie, logopedie• Combaterea reactiilor adverse
(administrarea postprandial / anteprandial, regim normo/hipersodat cu alimentatie echilibrata, ciorapi elastici
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Sindromul coreic
• ereditar: coreea Huntington, coreea benigna• toxic: alcool, intoxicatie CO• medicamente: antiparkinsoniene,
contraceptive orale• infectii: encefalita, coreea Syndenham• metabolice: hipertiroidism, hipocalcemie• imunologice: LES, poliarterita nodoasa• alte: gravidica, policitemia vera
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Coreea Huntington
• AD – crz 14 – CAG >35,>40-penetranta completa
• Apare la 30-40 ani• Degenerare striat + cortex F-P
– deficit GABA + Acy• Coree + dementa• Tulburari personalitate, psihoza• Incapacitate fixare privirii• Dementa• Scadera in greutate
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Coree Huntigton
• Forma juvenila- sdr rigid-akinetic progresiv ( varianta Westphal)
• Tratament : alimentatie hipercalorica
antidepresiv(SSRI) fenotiazine: haloperidol,
tetrabenazina /tiapridal
• Supravietuire 15-20 ani
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Coreea Sydenham
• infectie streptococus pneumonie
• arterita necrozanta: talamus, caudat, putamen
• latenta sapt-luni
• coree + tulburari personalitate
• recurenta: in sarcina, infectii
• trat: fenotiazine, penicilina
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Boala Wilson (degenerescenta hepatolenticulara)
• Sdr de panstriat
• Combinatia celor doua forme paleo/neo
• Prezenta afectarii psihice
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Boala Wilson
Etiologie: AR, numeroase mutatii la nivelul cr 13q14-gena ATP7B care codifica ATP-aza membranara care leaga Cu
Fiziopatologie: scade incorporarea Cu in ceruloplasmina si scade excretia biliara de Cu -> depozite tisulare de Cu (ciroza, anemie hemolitica, nefropatie tubulara, inel Kayser-Fleischer, afectare neurologica)
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Boala WilsonDebut: 50% pana la 15 ani, uneori in a 3-a decada, rar dupa 50 de ani
Clinic: frecvent manifestari initial hepatice (hepatopatie ac/cr -> ciroza multilobulara, splenomegalie);
Neurologic: Tipic: Parkinsonism, disartrie, disfagie si hipersalivatie, mb in flexie, facies hipomimic cu gura intredeschisa, tremor de repaus, incetinirea miscarilor oculare, limitarea privirii in sus, crize epileptice (6%) -> mutism, imobilitate, rigiditate extrema, distonie, dementa (tardiv).
Atipic: coreoatetoza precoce, posturi distonice, ataxie cerebeloasa cu rigiditate minima, mutism imobil cu rigiditate extrema, dementa, tulburari de comportament sau psihoza cu putine semne extrapiramidale, mioclonii intentionale.
Psihiatric: tulburari de comportament, depresie, halucinatii
Inelul Kayser-Fleischer - prezent – exista manifestarile neurologice.
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Boala Wilson
Laborator: ceruloplasmina serica <20 mg/dl,
Cu seric < 3-10 mM/l (normal 11-24), Cu urinar/24 h crescut > 100 mg,
Cu/ g tesut hepatic uscat >200 mcg, lipsa de incorporare a Cu
marcat in ceruloplasmina,
aminoacidurie persistenta,
teste hepatice frecvent anormale,
Biopsie hepatica - ciroza,
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Boala Wilson
CT /RMN cerebral: largire moderata a ventriculilor 1,2,3, santurile cerebrale si cerebeloase largite, micsorarea TC, hipodensitate/hiperintensitate ncl. lenticulari ncl.rosu, ncl. dintat
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Miscari involuntare
• tremor
• mioclonii
• atetoza
• coree
• hemibalism
• spasme habituale,ticuri
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Tremor
• Fiziologic ( este exacerbat de afectarea metabolica – hipertiroidie, hipoglicemie, hipercorticism; xantine )
• Esential ( cel mai comun tip de tremor )
• Parkinsonian ( de repaus )
• Intentional ( cerebelos )
• Isteric
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Tremorul
BP• 65-75%• Fara istoric familial • Pacienti < 65 ani• Repaos• Membre, barbie• Progresiv• Bradikinezie +• Trat: L-Dopa,
Propranolol
Tremor esential• 100%• Istoric familial 50%• copilarie, adulti, varstnici• Postural, miscare• Maini, cap, voce• Lent progresiv• Bradikinezie –• Trat: Propranolol,
Primidona, ALCOOL +
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Distonia
• Contractia simultana a musculaturii agoniste+antagoniste
• Predomina pe mm. axiala• Persista timp mai indelungat• Tip: - primar ( b.neurodegenerativa )
- secundar (vasculara, tumorala, inflamatorie, traumatica, toxica)
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Tratament
• Anticolinergice – trihexifenidil
• Diazepinice centrale – clonazepam (Rivotril)
• DBS