Isifo se-Creutzfeldt-Jakob singesinye sezifo ze-prion. Lezi yizifo ezingavamile ezibonakala ngokuwohloka kwesimiso sezinzwa esimaphakathi futhi zibizwa nangokuthi i-subacute transmissible spongiform encephalopathies (TSE). Zibangelwa ukunqwabelana ebuchosheni bephrotheni evamile kodwa engahambisani kahle, iphrotheni ye-prion (1). Ngeshwa, isifo se-Creutzfeldt-Jakob sibonakala ngenkambo esheshayo nebulalayo kanye nokungabikho kokwelashwa. Kunamacala ayi-100 kuye kwayi-150 unyaka ngamunye eFrance (2).

Lesi sifo sivame ukuqala ngezinkinga ezingaqondile njengokuqwasha noma ukukhathazeka. Kancane kancane, inkumbulo, ukuqondisa kanye nokuphazamiseka kolimi kuyaqala. Kube sekubonakaliswa ukuphazamiseka kwengqondo kanye ne-cerebellar ataxia (ukungazinzi lapho umile unganyakazi nalapho uhamba okuhambisana nokudiyazela okufana nokudakwa). Kukhona nezilonda ezijwayelekile ohlelweni lwezinzwa olumaphakathi (ama-florid plaque, ama-amyloid deposits e-PrPres azungezwe ama-vacuoles).

Bobabili ubulili buyathinteka, nokho-ke imvamisa ephezulu kubantu abadala abasebasha.

Ngeshwa, akukho ukuhlolwa okuthembekile kokuxilonga. I-electroencephalogram (EEG) ingakwazi ukubona ukuphazamiseka okuthile emsebenzini wobuchopho. I-MRI yembula ukungahambi kahle okuthile ezindaweni ezithile zobuchopho (i-basal ganglia, i-cortex) okunokuxilongwa okumbalwa kwakho okuhlukile.

Uma zonke lezi zici zomtholampilo kanye ne-paraclinical zingenza kube nokwenzeka ukuxilonga isifo se-Creutzfeldt-Jakob, kungukuxilongwa okungenzeka: empeleni, ukuhlolwa kuphela kwezicubu zobuchopho, okwenziwa kaningi ngemva kokufa kuvumela ukuqinisekisa ukuthi ukuxilongwa.

Isifo se-Creutzfeld-Jakob ukuphela kwesifo somuntu esingaba yimbangela yofuzo (ngenxa yokuguquka kofuzo olufaka iphrotheni ye-prion, ukuguqulwa kwe-E200K kuyisona esivame kakhulu), imbangela ethathelwanayo (yesibili kuya ekuthelelekeni) noma isimo esingavamile ( ukwenzeka okungahleliwe, ngaphandle kokuguqulwa noma ukuchayeka ku-prion yangaphandle etholakele).

Kodwa-ke, ifomu elingavamile yilona elivame kakhulu: libalelwa ku-85% wazo zonke i-subacute transmissible spongiform encephalopathies (TSEs) ezitholakala unyaka ngamunye. Kulokhu, lesi sifo sivame ukuvela ngemva kweminyaka engama-60 futhi siqhubeke esikhathini esingangezinyanga eziyisi-6. Uma isifo siwufuzo noma sithathelwana, izimpawu zisheshe futhi ziqhubeke kancane. Emafomu athathelwanayo, isikhathi sokufukamela singaba side kakhulu futhi sidlule iminyaka engama-50.

Iprotheyini ye-prion (PrPc) iyiphrotheni ye-physiological etholakala ngendlela egcinwe kakhulu ezinhlotsheni eziningi. Kuma-neurons obuchopho, iphrotheni ye-prion ingaba yi-pathogenic ngokushintsha ukuhlangana kwayo kwezinhlangothi ezintathu: igoqana ngokwayo iqine kakhulu, okuyenza ibe yi-hydrophobic, incibilike kancane futhi imelane nokuwohloka. Ibe isibizwa nge- “scrapie” prion protein (PrPsc). I-PrPsc ihlanganisana futhi yenze amadiphozithi aphindaphindeka ngaphakathi nangaphandle kwamaseli obuchopho, aphazamise ukusebenza kwawo kanye nezindlela zokuphila.

Kuleli fomu elingajwayelekile, iphrotheni ye-prion nayo iyakwazi ukudlulisa ukungahambi kahle kwayo: lapho ithintana ne-PrPsc, iphrotheni evamile ye-prion yona ithatha ukuhambisana okungavamile. Lona umphumela we-domino.

Ingozi yokutheleleka phakathi kwabantu ngabanye

Ukudluliselwa komuntu ngamunye kwezifo ze-prion kungenzeka ngokufakelwa kwezicubu noma ngokulandela ukuphathwa kwama-hormone okukhula. Izicubu eziyingozi kakhulu zivela ohlelweni lwezinzwa olumaphakathi kanye neso. Ngokwezinga elincane, uketshezi lwe-cerebrospinal, igazi nezitho ezithile (izinso, amaphaphu, njll.) nakho kungadlulisela i-prion engavamile.

Ingozi yokudla

 Ukutheleleka kwe-prion kusuka ezinkomeni kuya kubantu ngokudla ukudla okungcolile kwakusolwa ngo-1996, ngesikhathi senhlekelele "yenkomo ehlanya". Iminyaka eminingana manje, ubhubhane lwe-bovine spongiform encephalopathy (BSE) luhlasele imihlambi e-United Kingdom3. Ukusabalala kwalesi sifo se-prion, esasithinta amashumi ezinkulungwane zezilwane unyaka ngamunye, ngokungangabazeki kwakubangelwa ukusetshenziswa kwempuphu yezilwane, ekhiqizwa ngezidumbu futhi engangcoliswanga ngokwanele. Nokho, kusaphikiswana ngomsuka wawo.

Namuhla, akukho ukwelashwa okuqondile kwezifo ze-prion. Izidakamizwa ezinganqunywa kuphela yilezo ezingakwazi ukukhulula noma ukunciphisa izimpawu ezihlukahlukene zesifo. Ukwesekwa kwezokwelapha, kwezenhlalo nezengqondo kunikezwa iziguli nemindeni yazo yi-National CJD Support Unit. Ukusesha imithi okuhloswe ngayo ukuvimbela ukuguqulwa kwe-PrPc, ukugqugquzela ukuqedwa kwezinhlobo ezingavamile zeprotheni kanye nokunciphisa ukusabalala kwayo kunethemba. Umthofu othakazelisayo uqondise i-PDK1, omunye wabaxhumanisi bamaselula abathintekayo ngesikhathi sokutheleleka. Ukuvinjelwa kwayo kuzokwenza kube nokwenzeka kokubili ukuvimbela isenzakalo sokuguqulwa ngokuphromotha ukuqhekeka kwe-PrPc, kanye nokunciphisa imiphumela yokuphindaphinda kwayo ekusindeni kwama-neurons.