Da li je primena perampanela korisna u lečenju Laforine bolesti?
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.
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