Encelopatía de Creutzfeldt - Jakob con mutación E200K - A propósito de un caso resportado como "esporádico"
DOI:
https://doi.org/10.31053/1853.0605.v61.n1.32933Keywords:
Creutsfeldt Jakob, Disease (CJD), E200KAbstract
reutzfeldt Jakob discase (CJD) has the highest incidence of the wholc group of transmissible spongiforin encephalopathies or prion diseases, which have the unique feature among all pathologies, to be able to appear as infectious/iatrogenic, sporadic or hereditary, bcing common to all, the deposition of an abnormal prion protein (PrP- , ) in (he central nervous system. More than 20 mutations of the gene (PRNP) (hat encodes (he prion protein have been described. Wc here report a case of CJ13(E200K) refered as probable 'sporadic' according Lo WHO. Methods: clinica.l, pathologíc, and molecular features of the disease were characLerized using EEG. neuropaLholo'. prionprotein (PrP) Westerri blot and gene (PRNP) analysis. Results: The paticnt developed visual hallucinations, myoclonus, memory loss, tremor, clisbasia and gencralized convulsives seizures dying six months after onset. On neuropathologic examination,spongiform changes were observed and PrP immunopositivity detected. Western blot analysis showed the presence of proteinaseK (PK)—resiskmt PrP (PrP 1 with the nonglycosylatedisoform of approximately 21 kd. and DNA restricuon fragment length polymorphism ( RFLP) analysis showed the E200K mutation. Discussion: The PRNP(E200K) mutaUon is (he mosi frequent cause of the hereditary-familial CJD (ÍCJD). Clusters of (bis variety have been described in Chileans, Slovaks from Orava, Jcws Israclies of Libyan origin, and Japanese. Thcre was no available data of affccted relatives of the patient which have suggcsted he was fCJD, but due (o his Chilcan origin PRNP studies werc carried out. In fact (he clinical and palhology of (his familial forrn, with remarkable cxceptions, resembles sporadic cases but has a greater incidence, in these groups (han sporadic in (he general population. Conclusion: This patien L. although clinically reponed as probable 'sporadic', after molecular characterization rcsulted a CJ13(E200K) probably belonging Lo (he Chilean cluster.
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