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2020, vol. 77, br. 5, str. 539-544
Da li je primena perampanela korisna u lečenju Laforine bolesti?
aUniverzitet u Beogradu, Medicinski fakultet, Institut za neurologiju i psihijatriju za decu i omladinu
bUniverzitet u Beogradu, Biološki fakultet

e-adresagalina.stevanovic.npk@gmail.com
Ključne reči: Laforina bolest; dijagnoza; antiepileptici; perampanel; lečenje, ishod
Sažetak
Uvod/Cilj. Laforina bolest (LB) je progresivna mioklonička epilepsija koja se odlikuje tvrdokornim mioklonusom i napadima, neumoljivim neurološkim i brutalnim kognitivnim propadanjem i lošom prognozom. Terapija je, za sada, isključivo simptomska. Nedavno su dve studije pojedinačnih slučajeva i jedna sa prikazom serije bolesnika pokazale povoljan efekat perampanela na LB. Cilj rada je bio da se istraži povoljan uticaj primene perampanela u terapiji LB, kako je to prikazano u malom broju studija u dostupnoj literaturi. Metode. Sprovedena je otvorena, prospektivna studija na 4 bolesnika, uzrasta 22-34 godine, sa mutacijom u NHLRC1 (EPM2B) genu, koji su lečeni perampanelom 6-8 mg/dnevno, kao dodatnom terapijom. Period praćenja je bio 14-26 meseci. Procenjivani su učestalost napada, mioklonus, funkcionalna onesposobljenost i kognitivno funkcionisanje. Rezultati. Nakon uvođenja terapije postignuta je značajno bolja kontrola napada i došlo je do smanjenja (> 50%) mioklonusa kod 3 bolesnika. Kod jednog bolesnika nije zapažen povoljan terapijski odgovor. Funkcionalno i kognitivno poboljšanje nije uočeno, iako su svi bolesnici bili u kasnijim stadijumima bolesti. Psihijatrijska neželjena dejstva su bila dozno zavisna. Zaključak. Našom studijom podržana su retka iskustva da je perampanel koristan u lečenju bolesnika sa LB.
Reference
Brodie, M.J., Schachter, S.C., Kwan, P. (2012) Fast facts: Epilepsy. Oxford, UK: Health Press Limited
Buck, M.L. (2016) Use of perampanel for refractory seizures in pediatric patients. Pediatr Pharmacother, 22(1): 1-4
Canafoglia, L., Ciano, C., Panzica, F., Scaioli, V., Zucca, C., Agazzi, P., Visani, E., Avanzini, G., Franceschetti, S. (2004) Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology, 63(12): 2309-2315
Dinuzzo, M., Mangia, S., Maraviglia, B., Giove, F. (2015) Does abnormal glycogen structure contribute to increased susceptibility to seizures in epilepsy?. Metabolic Brain Disease, 30(1): 307-316
Dirani, M., Nasreddine, W., Abdulla, F., Beydoun, A. (2014) Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel. Epilepsy & Behavior Case Reports, 2: 164-166
Ettinger, A.B., LoPresti, A., Yang, H., Williams, B., Zhou, S., Fain, R., Laurenza, A. (2015) Psychiatric and behavioral adverse events in randomized clinical studies of the noncompetitive AMPA receptor antagonist perampanel. Epilepsia, 56(8): 1252-1263
Franceschetti, S., Gambardella, A., Canafoglia, L., Striano, P., Lohi, H., Gennaro, E., Ianzano, L., Veggiotti, P., Sofia, V., Biondi, R., Striano, S., Gellera, C., Annesi, G., Madia, F. (2006) Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia, 47(3): 640-643
French, J.A., Krauss, G.L., Wechsler, R.T., Wang, X., DiVentura, B., Brandt, C., Trinka, E., O'Brien, T.J., Laurenza, A., Patten, A., Bibbiani, F. (2015) Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy: A randomized trial. Neurology, 85(11): 950-957
Frucht, S.J., Leurgans, S.E., Hallett, M., Fahn, S. (2002) The unified myoclonus rating scale. Adv Neurol, 89: 361-76
Genton, P., Jovic, N.J., Lesca, G., Kecmanovic, M. (2015) Is adjunctive perampanel an option for intractable seizures in Lafora disease?. Epilepsia, 56(1): 57-8
Gentry, M.S., Guinovart, J.J., Minassian, B.A., Roach, P.J., Serratosa, J.M. (2018) Lafora disease offers a unique window into neuronal glycogen metabolism. Journal of Biological Chemistry, 293(19): 7117-7125
Goldsmith, D., Minassian, B.A. (2016) Efficacy and tolerability of perampanel in ten patients with Lafora disease. Epilepsy & Behavior, 62: 132-135
Kecmanović, M., Jović, N., Keckarević-Marković, M., Keckarević, D., Stevanović, G., Ignjatović, P., Romac, S. (2016) Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. Clinical Genetics, 89(1): 104-108
Kecmanović, M., Keckarević-Marković, M., Keckarević, D., Stevanović, G., Jović, N., Romac, S. (2016) Genetics of Lafora progressive myoclonic epilepsy: Current perspectives. Application of Clinical Genetics, 9: 49-53
Krauss, G.L., Serratosa, J.M., Villanueva, V., Endziniene, M., Hong, Z., French, J., Yang, H., Squillacote, D., Edwards, H.B., Zhu, J., Laurenza, A. (2012) Randomized phase III study 306: Adjunctive perampanel for refractory partial-onset seizures. Neurology, 78(18): 1408-1415
Lagae, L., Villanueva, V., Meador, K.J., Bagul, M., Laurenza, A., Kumar, D., Yang, H. (2016) Adjunctive perampanel in adolescents with inadequately controlled partial-onset seizures: A randomized study evaluating behavior, efficacy, and safety. Epilepsia, 57(7): 1120-1129
Michelucci, R., Pasini, E., Riguzzi, P., Andermann, E., Kälviäinen, R., Genton, P. (2016) Myoclonus and seizures in progressive myoclonus epilepsies: Pharmacology and therapeutic trials. Epileptic Disorders, 18(Suppl 2): 145-153
Minassian, B.A. (2016) Post-modern therapeutic approaches for progressive myoclonus epilepsy. Epileptic Disorders, 18(S2): 154-158
Minassian, B.A. (2001) Lafora's disease: Towards a clinical, pathologic, and molecular synthesis. Pediatric Neurology, 25(1): 21-29
Ortolano, S., Vieitez, I., Agis-Balboa, R.C., Spuch, C. (2014) Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. Molecular Brain, 7(1): 7-7
Schorlemmer, K., Bauer, S., Belke, M., Hermsen, A., Klein, K.M., Reif, P.S., Oertel, W.H., Kunz, W.S., Knake, S., Rosenow, F., Strzelczyk, A. (2013) Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease). Epilepsy & Behavior Case Reports, 1: 118-121
Steinhoff, B.J. (2014) Efficacy of perampanel: A review of pooled data. Epilepsia, 55(Suppl 1): 9-12
Striano, P., Zara, F., Turnbull, J., Girard, J., Ackerley, C.A., Cervasio, M., de Rosa, G., del Basso-de, C.M.L., Striano, S., Minassian, B.A. (2008) Typical progression of myoclonic epilepsy of the Lafora type: A case report. Nature Clinical Practice Neurology, 4(2): 106-111
Turnbull, J., Tiberia, E., Striano, P., Genton, P., Carpenter, S., Ackerley, C.A., Minassian, B.A. (2016) Lafora disease. Epileptic Disorders, 18(Suppl 2): 38-62
Turnbull, J., Depaoli-Roach, A.A., Zhao, X., Cortez, M.A., Pencea, N., Tiberia, E., Piliguian, M., Roach, P.J., Wang, P., Ackerley, C.A., Minassian, B.A. (2011) PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. PLoS Genetics, 7(4): e1002037-e1002037
 

O članku

jezik rada: engleski
vrsta rada: izvorni naučni članak
DOI: 10.2298/VSP170416013S
objavljen u SCIndeksu: 15.06.2020.
metod recenzije: dvostruko anoniman
Creative Commons License 4.0

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