Isihloko Esishushu: I-Prodromal synucleinopathies - Ingxaki yokuziphatha kokulala kwe-REM

Kule siqendu sokuqala, siza kuthetha nge-REM sleep behavior disorder. Kwaye ngenxa yoku, ndinoLaura Pérez Carbonell njengendwendwe, ongumcebisi kwizonyango zokulala kunye ne-neurology kwiZiko leengxaki zokulala kwiSibhedlele saseGuy's eLondon. Enkosi kakhulu Laura, ngokujoyina nathi namhlanje.

UDkt. Laura Perez-Carbonell: Enkosi kakhulu, Eduardo, ngokundibona. Kuluyolo kakhulu ukuba lapha.

UDkt. Eduarduo de Pablo Fernandez: Ngoko ke akuqhelekanga ukuba sibe neengcali zokulala kwi [00:01:00] i-MDS Podcast. Ndifuna ukuqala udliwanondlebe nawe usixelele kancinci ngawe, indlela oziqeqesha ngayo kunyango lokulala, kunye nokuba kukho naziphi na izifundo ezisemthethweni okanye iindlela zokufikelela kolu qeqesho njengoko oku kunokuba nomdla kwabanye abaphulaphuli.

UDkt. Laura Perez-Carbonell: Ndicinga ukuba lo ngumbuzo osele ukho ixesha elide, kwaye sonke sivakalelwa kukuba kufuneka sifumane indlela yethu yoqeqesho lokulala. EYurophu, kukho iindawo ezimbalwa apho unokufumana uqeqesho oluthile oluzinikeleyo lokulala njengengcali yezifo zengqondo. Kwimeko yam, ndagqiba ekubeni ndenze i-master's yam kwiyeza lokulala kwiYunivesithi yaseBarcelona apho ndagqibezela khona iPhD yam kamva.

Ndigqibe ekubeni ndenze oku emva kokuba ndigqibile uqeqesho lwam kwi-neurology eMadrid, eSpain. Emva koko ndafudukela apha e-UK ukuze ndenze i-fellowship kwi-sleep medicine eGuy's naseSt Thomas' apho ndisebenza khona ngoku. Ndicinga ukuba kwabo banomdla kakhulu [00:02:00] ekuqeqeshweni kwi-sleep kwaye bafuna ukuphuhlisa umsebenzi wabo kweli candelo eYurophu ndicinga ukuba isiqinisekiso sengcali kwi-sleep medicine yi-European Sleep Research Society yindlela efanelekileyo.

Kwaye ke ndiyazi ukuba kukho amanye amazwe aneendlela zawo, kodwa ngokubanzi ayilocandelo elisemgangathweni ofanelekileyo lokuqeqesha kulo kwaye yinto sonke esigqibe ekubeni siyenze ngendlela yethu kwaye sikhangela indlela yethu.

UDkt. Eduarduo de Pablo Fernandez: Enkosi ngokwabelana ngaloo nto. Ngoko ke masiqale nge-REM sleep behavior disorder. Okokuqala, ungasixelela kancinci ukuba yintoni i-REM sleep kunye nento eyenzekayo ngexesha le-REM sleep behavior disorder?

UGqr. Laura Perez-Carbonell: Ewe. Ngoko ke ukulala kwe-REM yenye yezigaba zokulala esinazo kumjikelo opheleleyo wokulala. Ngoko ke sinobuthongo obungeyo-REM, obububuthongo bokuhamba kwamehlo obungakhawuleziyo ukusuka ku-N1 no-2 no-3, obulula ukuya kumanqanaba okulala anzulu. Emva koko sinobuthongo be-REM, [00:03:00] ukulala okukhawulezayo kwamehlo okwenzeka rhoqo kumjikelo ngamnye esinawo ubusuku bonke.

Kodwa ixinene ngakumbi, idla ngokuba rhoqo kwisiqingatha sesibini sobusuku. Ngoko ke kwenzeka kumjikelo wokuqala wokulala esinawo, kodwa idla ngokuba nde ngakumbi kwisiqingatha sesibini, ekupheleni kobusuku. Kweli nqanaba lokulala, ngokwesiqhelo, sidla ngokuba namaphupha amaninzi okanye uhlobo lwamaphupha esiwakhumbula rhoqo.

Kwaye ngokwembono ye-physiological, uphawu oluphambili kukuba, ngaphandle kokuhamba kwamehlo ngokukhawuleza, izihlunu zomzimba wethu kufuneka ziphumle, kufuneka zibe ne-atonic. Ngoko ke i-muscle atonia luphawu lwe-neurophysiological lwale nqanaba. Kwi-REM behavior disorder okanye i-REM sleep behavior disorder, sibona ukuba izigulane zine-physiological muscle atonia etshintshiweyo.

Ngoko ke, balahlekelwa yi-muscle atonia xa belele kwi-REM, kwaye ngenxa yoko bagqibela [00:04:00] besenza amaphupha abo. Banokwenza izinto ezifana nokubetha okanye ukukhaba, banokuphakamisa iingalo zabo, banokukhwaza. Banokwenza nezinto ezintle ngakumbi njengokucula okanye ukuhleka. Kwaye zonke ezi ndlela zokuziphatha, iintshukumo, okanye ukucula zibonakala zihamba nomxholo wamaphupha abo.

Ngokwesiqhelo, la maphupha acacile kwaye agcwele intshukumo, kuquka izinto ezifana nokufuna ukuzikhusela kwingozi yokuhlaselwa sisilwanyana, ngumntu. Kodwa anokuba nokunye, kwakhona, okumnandi. Ngamanye amaxesha badlala imidlalo okanye bancokola nje nomntu ephupheni labo.

UDkt. Eduarduo de Pablo Fernandez: Kuhle kakhulu. Ungasixelela ukuba oku kunokwenzeka kwimeko yeengxaki ze-neurodegenerative okanye kungenzeka nakweyodwa, akunjalo?

UGqr. Laura Perez-Carbonell: Ewe, ngokuqinisekileyo. Sicinga ngeentlobo zesibini ze-RBD, ezo zenzeka ngo-[00:05:00] iimeko ze-neurodegenerative ezifana ne-alpha-synucleinopathy, kwaye siza kuthetha ngale nto ngokweenkcukacha kamva. Kodwa nakwimeko yezinye izifo ze-neurological zihlala zixhaphakile, umzekelo, ukuze sibone kwikliniki yokulala kukho izigulane ezine-narcolepsy type 1 ezine-comorbid REM behavior disorder ebusuku.

Kukwakho nezinye iintlobo ezibonakala ngathi zibangelwa ngamayeza, ingakumbi amayeza athile okudakumba kodwa anokubangelwa zi-beta blockers. Emva koko sifumana into esiyibiza ngokuba yi-isolated REM sleep behavior disorder, i-isolated RBD, uhlobo oluvela lodwa njengoko igama layo libonisa, kwaye lunxulunyaniswa nomngcipheko wexesha elizayo wokuphuhlisa i-synucleinopathy ecacileyo.

UGqr. Eduarduo de Pablo Fernandez: Kuhle kakhulu. Siza kuthetha ngale nto kamva. Kodwa ukuba ungasixelela okungakumbi malunga nokuxilongwa, singakuqinisekisa njani ukuxilongwa? [00:06:00] Kwaye ndicinga ukuba kuba kwezinye iindawo ukufikelela kwizifundo zokulala okanye iiyunithi zokulala kuthintelwe kakhulu, singalufumana njani ukuxilongwa okukhuselekileyo nokuchanekileyo ngaphandle kwezifundo zokulala?

Kwaye singaxoxa kancinci ngekamva, indlela izinto ezihamba ngayo ukuze kufumaneke uxilongo ngaphandle kwesibhedlele.

UGqr. Laura Perez-Carbonell: Ewe. Ewe. Sineemibuzo emininzi yovavanyo enceda ekuchongeni izigulane ezinokuba yi-RBD. Kwaye ukuza kuthi ga ngoku kusafuneka siqwalasele i-polysonography njengomgangatho olungileyo wokuqinisekisa ukuxilongwa, ukuchonga ukulahlekelwa yi-REM atonia, kunye nembali yeklinikhi ecebisayo esinokuqinisekisa ukuxilongwa.

Kodwa siyazi ukuba, ukufumaneka kwe-polysonography ngumceli mngeni kwiindawo ezithile zehlabathi. Kwaye ikwayinto enzima nokuba ikhona. Sisicelo esikhulu kwizigulane ezisengozini okanye ezihlala kude nelabhoratri yokulala ukuba ziphandwe ngale ndlela [00:07:00].

Ndicinga ukuba enye yezinto eziza kuba linyathelo elilandelayo lokufumanisa i-RBD ngendlela elula okanye esondeleyo kwizigulana kukuzisa izifundo emakhaya azo. Kwaye kukho umsebenzi owenziweyo ngokusebenzisa i-polysonography yevidiyo yasekhaya ebonakala iyindlela elungileyo yokufumana lonke ulwazi esinalo, kodwa kuthintelwe ukucela izigulana ukuba zize kwilabhoratri yokulala xa oko kusenokungafumaneki okanye kukude kakhulu nendawo ezihlala kuyo.

Mhlawumbi ikamva liza kusinika namanye amathuba aquka ukusebenzisa iimpawu ezithile ezilinganiselweyo endaweni ye-polysonography epheleleyo. Ukugqiba okanye ukukhetha iimpawu ezithile ezinokusinceda sichonge inqanaba lokulala apho sisebenza khona kwimisipha ngexesha lokulala kwe-REM kwaye mhlawumbi nevidiyo.

Kaloku, ukuba besikwazile ukubamba iintshukumo, nokuba bekungekho ziqendu ze-RBD ezipheleleyo [00:08:00], kodwa neentshukumo ezincinci nezimfutshane ezichonga ukulala kwe-REM zinokuba luncedo kakhulu. Ngoko ke umsebenzi omninzi wenziwa okwangoku ngamaqela ahlukeneyo kwihlabathi liphela kwaye kukho, ewe, olu qaliso lokusetyenziswa kweemodeli zokufunda koomatshini uhlalutyo oluzenzekelayo lweziphumo ezidibeneyo ezifunyenwe yi-a, iseti encinci yemiqondiso endaweni yevidiyo epheleleyo ye-PSG ukuzama ukuchonga okanye ukwahlula izigulane ezine-RBD kwabo bangenayo i-RBD.

Ukuba sicinga ngakumbi kwimeko yoluntu ngokubanzi sizama ukuchonga izigulane ezininzi kangangoko kunokwenzeka, ingakumbi abo bane-RBD eyodwa esiyaziyo ukuba basengozini enkulu yokuphuhlisa imeko ye-neurodegenerative. Kuya kufuneka sibe nendlela elandelelanayo kwaye kusenokwenzeka ukuba kwixesha elizayo kuya kufuneka sisebenzise imigaqo apho sisebenzisa imibuzo yokuhlola, mhlawumbi songeze inyathelo eliphakathi nodliwanondlebe olunokwenziwa kude, [00:09:00] size emva koko sazise ezinye izixhobo ezilula, izixhobo ze-PSG ezilinganiselweyo ezinokusinceda emva koko siqinisekise ukuxilongwa.

Kodwa ewe, ndicinga ukuba kukho izinto ezimbalwa ekufuneka ziphuhliswe kwaye kuya kufuneka kubekho imisebenzi ethile eyenziwayo ukuzama ukwenza iindlela esizisebenzisayo kulo mba zibe zezona ziqhelekileyo.

UGqr. Eduarduo de Pablo Fernandez: Kuhle kakhulu. Kwaye xa ndibuyela kwizifundo ze-neurophysiological, ngoko ke into endiyiqondayo kukuba izinto zihamba ngendlela efana nesifo sokuwa, apho unokufumana iirekhodi ze-electrophysiological ngendlela yokuhambahamba. Kwaye ndingathanda ukuba uphawule kancinci ngezinye zeengxaki ze-polysomnography yevidiyo njengomntu olaliswe ngaphakathi kuba ngamanye amaxesha le yinto thina njengoogqirha esiye sayichasa kumntu esicinga ukuba unesifo se-REM sleep behavior disorder kodwa abuye ne-polysomnography eqhelekileyo.

Ungaphawula kancinci ngaloo nto?

UGqr. Laura Perez-Carbonell: Ngoko ke ndicinga ukuba ngumbuzo obaluleke kakhulu lowo. Ndicinga ukuba, ewe ukuba kwindawo ongayiqhelanga akuncedi nganto, [00:10:00] kwaye ngakumbi kwezo labhoratri zokulala ezikwiwadi, iwadi yesibhedlele, umzekelo, zingxolo kakhulu, zinokuphazamisa kakhulu.

Ngoko ke ndicinga ukuba yonke ilabhoratri yokulala izama ukuzola kangangoko kunokwenzeka. Kodwa kukho izinto ezinokuchaphazela umgangatho wokulala, kwaye ezinye izigulana azivakalelwa kukuba zilele kamnandi xa zihlala kwilabhoratri yokulala. Ngoko ke loo nto ngumda.

Kukho nezinye izigulana apho ngenxa yexesha labo elifutshane lokulala, okanye ngenxa yempembelelo yamayeza athile, sisenokungakwazi ukuqopha ubuthongo be-REM ngobusuku obunye, kwaye eso sisizathu esiqhelekileyo sokuba sigqibe siphinda izifundo. Ngoko ke ndicinga ukuba kukho imida okanye imingeni ekhoyo kwizifundo zokulala elabhoratri.

Kwelinye icala, ndicinga ukuba kulungile nokuba nendawo elawulwayo, ngokwembono yobugcisa. Kukho, ewe, ezinye izithintelo ozibonayo xa uphando lwenziwa ekhaya [00:11:00]. Kodwa mhlawumbi ngezixhobo ezilula, loo nto yinto esifanele sikwazi ukuyoyisa kwaye kunye nemfundo ethile kwizigulana okanye amaqabane ebhedi ukuba ayisombulule ebusuku.

UGqr. Eduarduo de Pablo Fernandez: Ingongoma enomdla, ewe. Masiqhubeke ngoku sithethe nge-REM sleep behavior disorder xa kuthethwa ngesifo sikaParkinson. Ngoko ke luphawu oluqhelekileyo ngokubanzi, kwaye ndingathanda ukuba uthethe ngokuxhaphaka kwaso, ukuba kukho naluphi na ulwazi malunga nekhosi, kuba enye yezinto kukuba sinokutshintshatshintsha kakhulu ngexesha lesifo.

Mhlawumbi ungathetha kancinci ngendlela yokulawula iimpawu zesifo sokuziphatha ngexesha lokulala se-REM ngonyango lwe-pharmacological kunye nonyango olungelulo olwe-pharmacological.

UGqr. Laura Perez-Carbonell: Ewe. Ndicinga ukuba ukuba sicinga ngezo zifundo ezisebenzise i-video polysonography ukuqikelela ukuxhaphaka kwe-RBD kwiParkinson's, oku kuqikelelwa phakathi kwama-25 nama-50% malunga. Kwaye kuqikelelwa ukuba malunga nama-20% aloo ngxaki i-RBD yaqala [00:12:00] kusenokwenzeka ukuba yaqala ngaphambi kokuba kuqalise ukungasebenzi kakuhle kwemisipha.

Ekuhambeni kwexesha, ukuba silandela amaqela ezigulane ezineParkinson's, kubonakala ngathi ukwanda kwe-RBD kuyanda. Kwaye kubonakala ngathi nakwinqanaba lomntu ngamnye ukuba senza izifundo ze-polysonography ezilandelayo sivame ukubona ukwanda kobungakanani bokulala kwe-REM ngaphandle kwe-atonia ngokuhamba kwexesha.

Ngoko ke loo nto sinokuyibona kulandelelwano lwaba baguli. Ndicinga ukuba ngokwezonyango kunzima kancinci ukuyivavanya. Okokuqala, kuba yimeko efana neyeengxaki ezininzi zokulala apho abaguli badla ngokungazi ngezi ziganeko. Ngoko ke ngaphandle kokuba bavuka rhoqo ngenxa yamaphupha abo, okanye ngenxa yokuba bewile ebhedini okanye bezenzakalise. Ngamanye amaxesha idla ngokuba liqabane elikuchazela ngokwenene okwenzekayo nokuba baphucukile na okanye akunjalo.

Ngoko ke ndicinga ukuba inxalenye yohlobo lokuguquguquka [00:13:00] kunye nokungaqiniseki malunga nokuba ikhosi kulindeleke ukuba ibe yintoni ngokuhamba kwexesha ngokwembono yeklinikhi kuxhomekeke kwinto yokuba sixhomekeke kwingqina elibona isigulane sizalisekisa amaphupha aso ebusuku. Ukuba akukho qabane ebhedini, ngamanye amaxesha kunzima ukuqikelela ukuba izinto zihamba njani.

Ngokwembono yonyango, ndicinga ukuba eyona nto ibalulekileyo kwingxoxo xa isigulane sikrokrela i-RBD okanye siqinisekisile ukuba i-RBD iyasebenza kukuthetha ngokhuseleko ukuqinisekisa ukuba imeko yegumbi lokulala ilungiswa ngendlela esizama ngayo ukunciphisa nayiphi na ingozi. Ngoko zama ukuphepha ukulala ecaleni lebhedi elikufutshane ne-radiator.

Ukuzama ukuba neepillow, iicushion phantsi, iireyile zebhedi ezinezigqubuthelo, i-headboard ethambileyo. Ukuze kubekho izinto ezilula ezinokuqwalaselwa. Ukususa itafile esecaleni kwebhedi, ukungabi neglasi kufutshane nazo. Ezo zinto bahlala bezisebenzisa, ukuya kuthi ga kwinqanaba elithile, xa ubabona eklinikhi kuba beqonda [00:14:00] kufuneka batshintshe izinto ezimbalwa ukuze bangazilimazi.

Kwaye, ewe, ukuzama ukugcina iqabane lebhedi likhuselekile ukuba baqhubeka belala kunye. Ubuncinane ukuba nomqamelo omde phakathi kwabo bobabini, mhlawumbi ibhedi enkulu ukuba oko kunokwenzeka. Ngoko ke kukho izinto ezimbalwa ekufuneka zixoxwe ngazo kuba ukhuseleko luyinto exhalabisayo nanini na xa ezi ziqendu zichazwa.

Ngokwembono yezonyango, ndicinga ukuba kubalulekile ukuphonononga lonke uluhlu lwamayeza abaguli abawasebenzisayo kuba badla ngokusebenzisa amayeza anokwenza i-RBD ibe mandundu okanye angenza ukulahlekelwa yi-REM atonia kube mandundu. Amayeza amaninzi afana ne-SSRIs, i-SNRIs, i-tricyclics, i-mirtazapine.

Ngoko ke kukho amayeza amaninzi okudakumba anokwenza izinto zibe mbi kakhulu, nokuba ebengengowona nto ibangela i-RBD yabo ekuqaleni. Kodwa ukuba bathatha la mayeza, ngokuqinisekileyo oku kunokuba ziimpawu eziya zisiba mbi ngakumbi. Ii-Beta blockers ezifana ne-bisoprolol, i-propranolol zinokuba mbi ngakumbi nakwiziganeko ze-REM behavior disorder.

Kukho iingxelo ezithile zamayeza asetyenziswa ngomlomo ane-cholinergic. Ngoko ke ndicinga ukuba, uphononongo olupheleleyo lwamayeza abawasebenzisa rhoqo lubalulekile. Kwakhona ukuba nengxoxo malunga nemikhwa yabo yokusebenzisa utywala. Nokuba basela ngaphambi kokuba balale, nokuba basela kakhulu kuba ngokwenene esikwaziyo kukuba, ukuba umntu usela kakhulu aze ngequbuliso angaseli ngobusuku obunye, i-RBD inokuba mandundu.

Kodwa notywala ngokwalo bunokuba nemiphumo ephazamisa ubuthongo. Ngoko ke ngokubanzi ayisiyiyo into efanelekileyo kule meko. Ngokwembono yezonyango, ukuthetha ngokujolisa ekulawuleni iimpawu ze-RBD ngokwenene ubungqina buvela kakhulu kwizifundo zokujonga, ii-RCT ezincinci.

Asinazo izifundo ezinkulu zolawulo olungabonakaliyo olucwangcisiweyo. [00:16:00], ubungqina esinabo buncinci kwaye buvela kakhulu kwizilingo zokujonga okanye ezincinci ezilawulwa ngokungacwangciswanga. Ndingathi mhlawumbi i-melatonin lukhetho lokuqala esinokuthi sizive sikhululekile ngakumbi ukuqalisa isigulana ngalo.

Kwaye isizathu kukuba siyazi ukuba inokunceda. Inokunceda ekunciphiseni ukulahleka kwe-REM atonia kwaye inokunceda ukulawula iimpawu zayo ngeprofayili yokhuseleko elungileyo. Ngenxa yokuba ezinye iindlela eziye zasetyenziswa, ngokwesiko kule meko, njenge-clonazepam siyazi ukuba inokunceda kakhulu kodwa kufuneka silumke kakhulu ngengozi enokubakho yokudideka, umngcipheko wokuwa.

Kakade ke, ukuba kukho i-sleep apnea enganyangwanga, sixhalabile ngokusebenzisa into efana ne-clonazepam. Ngoko ke xa kujongwa izigulane ezineengxaki ze-neurodegenerative ezisele zikho, kufuneka silumke xa sisebenzisa eli yeza kwaye ukuba kuyimfuneko, sizame ukuligcina likwidosi encinci.

Kukho ubungqina obuthile malunga nokusetyenziswa kwe-rivastigmine ye-transdermal, ingakumbi ukuba kukho ukuphazamiseka kwengqondo okunxulumene noko. Ngoko ke loo nto singayiqwalasela. Kwaye unyango lomgca wesine olufana ne-gabapentin okanye i-quetiapine, i-sodium oxybate.

Ngoko ke kukho ezinye iindlela ezinobungqina obungangqinelaniyo nezinye.

UGqr. Eduarduo de Pablo Fernandez: Kuhle kakhulu. Kwaye ukhankanye apho iziphumo ebezingalindelekanga, ngakumbi kwimeko yabantu abaneengxaki ze-neurodegenerative, kwaye ndicinga ukuba isigqibo kufuneka sithathwe ngabanye. Kodwa udla ngokuqala nini unyango lwe-pharmacological? Kungenxa yokuba ngamanye amaxesha ndicinga ukuba kunzima ukuvavanya impembelelo yeempawu, njengoko ukhankanyile ngaphambili.

Ngaba yinto oyinika wonke umntu okhalaza ngeempawu ze-REM sleep behavior disorder, okanye uzama ukuvavanya impembelelo kumguli okanye kwiqabane lakho elisebhedini ngakumbi kwaye ulinganisele iingozi?

UGqr. Laura Perez-Carbonell: Ewe. Ngoko ke ndingathi ngaphezulu kweyesibini, le yokugqibela. Ngoko ke icwangciswe ngokukodwa kwaye ndicinga ukuba sonke sinengxoxo [00:18:00] ephathelele kakhulu ukhuseleko. Ngoko ke ukhuseleko lwesigulana, ukhuseleko lomlingane webhedi. Ngoko ke ukuba kukho iinkxalabo kuloo mbono, nto leyo ngelishwa idla ngokuba njalo, siqala ngokuxoxa ngeendlela zonyango.

Ngoko ke ndingathi rhoqo izigulana zigqibela zifuna amayeza. Kodwa kuyinyani nokuba kwabanye izigulana, ekuhambeni kwexesha ziyayiqaphela indlela ezibonakala ngayo ezi ziganeko, zenza zonke ezi nguqu ngendlela ecokisekileyo kwaye abanye abantu bagqiba ekubeni bangaqhubeki namayeza abo besazi, ukuba ziziphi izibonelelo kunye neengozi.

Ngoko ke ndicinga ukuba yenzelwe umntu ngamnye kwaye ndicinga, uyazi, incoko enyanisekileyo, incoko evulekileyo nabo, kwaye iqabane lebhedi, ukuba kunokwenzeka, liyafuneka.

UGqr. Eduarduo de Pablo Fernandez: Kuhle kakhulu. Masiqhubeke ngoku sithethe nge-isolated REM sleep behavior disorder esiyaziyo sonke ukuba ngoku ifana nokubonakaliswa kwe-prodromal okusekwe kakuhle [00:19:00] kwezinye izifo ze-neurodegenerative ikakhulu isifo sikaParkinson. Ngoko ke kunokwenzeka kwiminyaka emininzi ngaphambi kokuba kuqale iimpawu ze-motor kunye nezifundo ezininzi ezibonelele ubungqina obuqinileyo boku.

Ungasixelela okungakumbi malunga ne-RBD eyodwa? Kutheni kubaluleke kangaka, umngcipheko wokukhula kwesifo se-neurodegenerative kunye neziphumo zaso zinokuba yintoni?

UGqr. Laura Perez-Carbonell: Ewe, njengoko ukhankanyile, i-RBD inxulunyaniswa kakhulu nophuhliso lwamva lwe-synucleinopathies ezifana nesifo sikaParkinson, i-dementia enemizimba yeLewy, i-multiple system atrophy. Izifundo ezinkulu zeqela ezilandele izigulane ixesha elide ziqikelela ukuba malunga namashumi asixhenxe anesihlanu ekhulwini lezigulane ezine-RBD ezizimeleyo ziphuhlisa i-synucleinopathy kulandelelwano lweminyaka eli-12, kwaye izinga lokuguqulwa kwe-phenoconversion yonyaka liqikelelwa kwi-6 ekhulwini malunga.

Ngoko ke sisizathu esinamandla, [00:20:00] kwaye kukho ubungqina obuninzi obubonisa oku. Nokuba izigulana ziza kugqibela zineParkinson's okanye i-dementia ngemizimba kaLewy, ndicinga ukuba kukho umngcipheko olinganayo phakathi kwezo ziphumo zimbini. Kukho imisebenzi ethile exhasa iDLB, eminye exhasa iParkinson's.

Oko sinokukubona ngokuphindaphindiweyo ligcuntswana lezigulane ze-RBD ezizimeleyo eziphuhlisa i-multiple system atrophy. Ngokuyintloko yiParkinson's okanye i-dementia enemizimba yeLewy. Kwaye ndicinga ukuba ukuba siqwalasela i-phenotype, ingakumbi kwabo baphuhlisa isifo sikaParkinson, ngokuqhelekileyo luhlobo lwemeko olubonakala lunobundlongondlongo ngakumbi, ngoko ke luhamba ngokukhawuleza iimpawu zomzimba.

Ngokwesiqhelo, zibonakala nge-akinetic motor presentation eqinileyo kune-Parkinson's tremor. Ngokuqhelekileyo zine-orthostatic hypotension, ukwehla kwengqondo kwangoko, ukubona izinto ezingekhoyo, ukozela kakhulu emini [00:21:00]. Ngoko ke kubonakala ngathi luhlobo oluqatha lweParkinson's ukuba lunxulunyaniswa ne-RBD. Kwaye ukuba sijonga umzimba oqhubekayo kuqala ngokuchasene neentlobo zokuqala zobuchopho sikholelwa ukuba mhlawumbi xa i-RBD ivele, ngokubanzi njengefom ezimeleyo kuqala kwaye emva koko iqhubeke nokuphuhlisa isifo sikaParkinson, kuya kuthathwa njengohlobo lokuqala lomzimba olubonakala ngokungasebenzi kakuhle kwe-autonomic, ukubandakanyeka kwenkqubo ye-enteric nervous, i-hyposmia kwaye emva kwexesha, iimpawu ze-motor ziye zaseka i-parkinsonism.

UGqr. Eduarduo de Pablo Fernandez: Kwaye wenze inqaku elinomdla kakhulu apho lokuba i-REM sleep behavior disorder iye yanxulunyaniswa nokubikezela okubi, kunye nokuqhubela phambili ngokukhawuleza kwesi sifo, umngcipheko ophezulu we-dementia, njl. Ngoko ke inexabiso elongezelelekileyo lokuxela kwangaphambili. Ngoko ke ngokucacileyo ukuba ne-REM sleep behavior disorder ngamanye amaxesha kangangeminyaka [00:22:00] kunika ithuba elihle lokuxilongwa kwangethuba, ukungenelela kwangethuba.

Kwaye kukho inkqubela phambili eninzi kwi-biomarkers kunye nophando olwahlukeneyo oluye lwazama ukufumanisa isifo sikaParkinson ukusuka ekutshintsheni ukuya ekufumaneni isifo ngokwezonyango ukusuka kwisiseko sebhayoloji. Ngaba kukho naziphi na izinto ezizayo ezinokwenza ukuxilongwa okanye ukuqikelela ukuba yeyiphi ipesenti yaba bantu abaya kuba nesifo sikaParkinson okanye ezinye iingxaki ze-neurodegenerative kwixesha elizayo?

Kwaye ngaba kukho naziphi na iziphumo ezivela kolu vavanyo ezinokusinceda ukuba sahlule aba bantu?

UGqr. Laura Perez-Carbonell: Ewe. Ngoko ke, loo nto inomdla kakhulu kwaye ndicinga ukuba ngoku ekubeni sonke sicinga ngezifundo zokuthintela ukuqhubela phambili, iimvavanyo zokuguqula izifo, le yingongoma ebaluleke kakhulu ekufuneka iphandwe kwaye ixoxwe ngayo. Kwizifundo ezinkulu ezijonga ii-biomarkers ezithile ngokuhamba kwexesha, kubonakala ngathi eyona nto inamandla yokuqikelela [00:23:00] yokuguqulwa kwe-phenoconversion kukuhlala kukungasebenzi kakuhle kwemisipha.

Nokuba ivavanywa ngovavanyo lwe-quantitative motor okanye nge-MDS-UPDRS Icandelo 3. Ngoko ke xa kujongwa, ihlala iyeyona nto iphambili ekuboniseni ukuba kukho i-phenoconversion. Kwakhona ukubakho kwezinye izinto ezifana ne-hyposmia okanye ukuphazamiseka kwengqondo okuncinci ekuqaleni, ukungasebenzi kakuhle kwe-erectile nako kunefuthe elinamandla lokuqikelela i-phenoconversion.

Xa sithetha ngezo zikufutshane ne-phenoconversion, inkqubela phambili kwiminyaka emihlanu ezayo umzekelo, ukuba nokungasebenzi kakuhle kwe-motor kwi-baseline engaqhelekanga, i-DAT SPECT imaging ibonakala iqikelela ukuba i-phenoconversion kwixesha elifutshane. Ngoku sikwixesha apho singenisa ubuncinane ukusuka kwindawo yophando ukuya kwezinye ii-biomarkers. Ukusetyenziswa kwezixhobo zedijithali umzekelo, kwaye oku kunokwenzeka ukuba kube lutshintsho olukhulu kwixesha elizayo apho izixhobo zedijithali ezisivumela ukuba sihlole ukungasebenzi kakuhle kwe-motor [00:24:00] zibe zezona zibalaseleyo, eyona nto inamandla yokuxela kwangaphambili i-phenoconversion yexesha elizayo iya kusinceda sivavanye izigulane kwaye sijonge izigulane kude.

Ngoko ke akufuneki ukuba sibe nazo eofisini. Sifanele sikwazi ukubamba ezo zinokuba zikufutshane ne-phenoconvert ngaphambi kokuba zenze i-phenoconvert kuba, ewe, singathanda ukuyithintela loo nto. Kukwakho nobungqina obuninzi obupapashwayo malunga nokuchongwa kwe-alpha-synuclein ngovavanyo olwahlukeneyo nakwizigulane ezine-RBD eyahlukileyo.

Oku kubonisiwe ukuba kukho kwi-CSF kodwa nakwizihlunu nakwezinye izicwili zabantu abaphilayo abane-RBD. Ngoko ke ndicinga ukuba mhlawumbi ikamva liza kufana kakhulu nemeko apho kufuneka sidibanise ezahlukeneyo zezi biomarkers. Ii biomarkers zeklinikhi, ezo zinokuvavanywa kude ngezixhobo zedijithali kunye nezinto ezinxitywayo kodwa [00:25:00] kunye nee biomarkers ze-biofluid, i-neuroimaging kwaye ke indibaniselwano yazo zonke ezi datha kufuneka isivumele ukuba sizame ukuchonga ngaphakathi kwe-synucleinopathy spectrum ezo zigulana ezine-RBD ezizimeleyo ezisengozini enkulu yokuguqulwa kwe-phenoconverte kungekudala.

Kwaye abo ngabo bafanele ukuba ngabaviwa abafanelekileyo kwiimvavanyo zeklinikhi, unyango oluguqula izifo.

UGqr. Eduarduo de Pablo Fernandez: Ndiyavuma ngokupheleleyo. Njengoko ubutshilo ngaphambili, ndicinga ukuba mhlawumbi yindlela ethatha amanyathelo anyukayo kwabo bavavanywa benezinye zezi mpawu kwaye kufuneka banyuselwe kwinqanaba elilandelayo. Ngoku ngumbuzo wam wokugqibela nje ndibuyela kwiimeko zeklinikhi.

Ngoko ke sinabo abantu abafika kwiikliniki zethu, kwaye kukho umngcipheko wesifo se-neurodegenerative, kodwa sisasebenza ngokwezonyango kancinci ngokwezinto esizixelayo malunga nomngcipheko wexesha elide [00:26:00] kunye nexesha lokuqhubela phambili. Kwaye ndiyazi ukuba le yindawo apho wenze uphando oluninzi khona.

Ndingathanda ukukubuza ukuba uzijonga njani ezi ngxoxo malunga nokutyhila umngcipheko kubantu abane-RBD? Zithini izinto ezilungileyo nezingalunganga zezi ngxoxo, kwaye uzijonga njani ezi ngxoxo?

UGqr. Laura Perez-Carbonell: Ewe. Ngoko ke le yingongoma ebaluleke kakhulu, ingxaki enzima kakhulu. Kuba kunokubakho ixesha elide kakhulu lokufumana isifo esiwohlokayo semithambo-luvo. Asinakuyinika izigulane zethu unyango lokuguqula isifo okanye unyango lokuthintela okwangoku.

Ngoko ke yingongoma enzima le. Kodwa ndicinga ukuba sonke siyavuma ukuba yinto ekufuneka siyenze uphando oluninzi kuyo, okokuqala. Senze ezinye kodwa sifuna amaqela amakhulu aneemvelaphi ezahlukeneyo njl. njl.

Sifanele sijonge ngakumbi ukuba zithini izimvo zezigulane, [00:27:00] ngokubanzi. Ubungqina obuncinci esinabo ngoku bubonisa ukuba uninzi lwabo lufuna ukwazi ngomngcipheko wabo. Kodwa ke, ezi zifundo zityekele kwicala lokuba ezi zigulane sele zibandakanyiwe kuphando.

Ngoko ke yintoni na, zeziphi iimbono zoluntu olubanzi lwe-iRBD ekufuneka zihlolwe. Sonke sineendlela ezahlukeneyo zokujongana nale nto, kwaye oku kuphuma kwizifundo ezipapashwe ngalo mba, ukuba kukho iindlela ezahlukeneyo phakathi koogqirha ababona izigulane ezine-RBD eyodwa, kwaye mhlawumbi sifuna izikhokelo ezicwangcisiweyo ngakumbi.

Ndicinga ukuba ekugqibeleni kufuneka, kwakhona, ibe yingxoxo yomntu ngamnye, kodwa sonke sifanele siqwalasele kwaye oku ndikwenza rhoqo kwikliniki yam, zeziphi izinto ezikhethwa sisigulana, ukuze isigulane sigqibe ekubeni sifuna ukwazi okanye asifuni.

Kwaye le yinxalenye enzima yencoko [00:28:00] kuba wena, ufuna ukuqonda indlela abaziva ngayo ngaphandle kokuba sele utyhile umngcipheko. Kodwa oko kubandakanya ukwazi isigulana kunye nokuthetha naso ubuso ngobuso ukuze ufumane uluvo lokuba bafunde kangakanani kwi-intanethi, nokuba bangathanda ukwazi kangakanani.

Kwaye ke ukuba bayakuvuyela ukufumana ulwazi oluthe kratya, xoxa ngezinto ezifana notshintsho kwindlela yokuphila kunye nokubandakanyeka kuphando kunye namathuba abanokuba nomdla kuwo. Kufuneka siqaphele izinto ezixhalabisayo, ewe, ugqirha ngamnye obona izigulane ezine-RBD ezimeleyo, oko kukuthi, ngaba banesifo sokudakumba esihambisana naso, okanye ixhala?

Yintoni inethiwekhi yenkxaso yesigulana ukuba sityhila olu lwazi? Akukho nto sinokuyinika ngokwembono yokuthintela, ngoko ke ngaba banayo inkxaso abanokuyidinga? Luluphi ulwazi lwabo lwangaphambili? Kuba ngoku kufuneka siqonde oko bakwaziyo, [00:29:00] kodwa ndingathi ngokuqhelekileyo, sele befunde into ethile kwi-intanethi.

Ngoko ke kubalulekile nokubanika izixhobo nolwazi oluthembekileyo. Ukuba kunokwenzeka, nokuba ukhona eklinikhi, ukuba nomntu oza kuncokola naye xa sixoxa nezigulana. Ngoko ke, ewe, yindlela ekhawulezayo apho ungazama ukuqonda ukuba bayafuna ukwazi okanye abafuni, kunye nemvakalelo yempembelelo enokubakho kwimpilo yabo yengqondo ebakhokelela apho banokulufuna khona ulwazi oluthe kratya ukuba bafuna ukwazi okungakumbi emva kwencoko.

UDkt. Eduarduo de Pablo Fernandez: Enkosi. Amanqaku anomdla kakhulu omawuwathathe aye nawo apho. Enkosi kakhulu Laura, ngokujoyina nathi namhlanje nokwabelana ngolwazi lwakho nobuchule bakho. Kwaye enkosi kakhulu kubaphulaphuli, kwaye ndiyathemba ukuba uyonwabele ingxoxo yanamhlanje. Sala kakuhle okwangoku.

UDkt. Laura Perez-Carbonell: Enkosi kakhulu. Ndiyavuya ukuba lapha. [00:30:00]