DETECTION AND DIAGNOSTIC OF HEREDITARY MONOGENIC NEUROLOGIC DISEASES IN SLOVAK REPUBLIC

AbstractJurasova A, Traubner P, Behulova R, Mezenska R, LukacovaM:Detection and diagnostic of hereditary monogenic neurologicdiseases in Slovak republicBratisl Lek Listy 2000; 101 (1): 14Œ17Authors present a€clinical symptoms recapitulation of themost important monogenic hereditary neuromuscular disea-ses, their molecular-genetic causes and the possibilities ofdiagnostic on the level of DNA analysis. Low detecability ofthese pathologic states in Slovak republic is stressed and po-ssible causes of this state are analyzed. (Ref. 10.)Key words: hereditary neurologic diseases, detection, dia-gnostic. Department of Neurology, School of Medicine and University Hospital,Bratislava. bll@fmed.uniba.skAddress for correspondence: A. Jurasova, MD, Dpt of Neurology, FN,Mickiewiczova 13, SK-813 69 Bratislava 1, Slovakia.Phone> +421.7.579 0452 AbstraktJurAEiovAE A., Traubner P., BehulovAE R., MezenskAE R., LukAEŁovAEM.:ZAEchytnoss a€diagnostika dediŁných monogOnne podmienenýchneurologických ochoreni na SlovenskuBratisl. lek. Listy, 101, 2000, Ł. 1, s. 14Œ17Autori v€ŁlAEnku rekapitulujœ klinickO priznaky najdoležitejiichmonogOnne podmienených dediŁných neuromuskulAErnych ocho-reni, ich molekulovo-genetickœ priŁinu a€možnosti diagnostikyna œrovni analýzy DNA. Poukazujœ na nizku zAEchytnoss týchtopatologických stavov na Slovensku a€analyzujœ niektorO možnOpriŁiny tohto stavu. (Lit. 10.)K¾œŁovO slovAE: dediŁnO neurologickO ochorenia, zAEchytnoss, dia-gnostika.