Uthotho lwe-Ataxia: Ukunyanga i-cerebellar ataxia ngo-2026 - Yintoni entsha?
UProfesa uOrlando Barsottini: [00:00:00] Molo kwaye wamkelekile kwi-MDS Podcast, i-podcast esemthethweni ye-International Parkinson and Movement Disorder Society. Ndingu-Orlando Barsottini, uprofesa we-neurology kwiYunivesithi yaseFederal yaseSao Paulo, eBrazil, kwaye namhlanje ndilapha noGqr. Liana Rosenthal. ULiana nguprofesa oncedisayo we-neurology kunye nomlawuli weziko le-Ataxia kwiJohns Hopkins University School of Medicine. Namhlanje sixoxa ngesihloko sokunyanga i-cerebellar ataxia ngo-2026: Yintoni entsha? Liana, Enkosi ngokujoyina nathi.
Jonga umbhalo opheleleyo
UDkt. Liana Rosenthal: Enkosi kakhulu ngokuba nam. Ndiyavuya ukuba ndilapha.
UProfesa uOrlando Barsottini: ULiana kude kube kutshanje i-ataxias, ingakumbi iifom zemfuza [00:01:00] zazithathwa njengesifo esinganyangekiyo. Ukuqala incoko yethu, ngaba sinezizathu zokuba nethemba okanye akunjalo?
UDkt. Liana Rosenthal: Ngoko ke eOrlando, ndicinga ukuba sinezizathu zokuba nethemba. Kukho izinto ezininzi ezahlukeneyo endinomdla kakhulu kuzo. Njengoko sicinga ngonyango lwethu lwee-ataxias ezahlukeneyo zemfuza. Ngexesha endisebenza ngalo kwaye ndinceda ukunyanga nokulawula abantu abane-ataxia, ngoko ke sele kudlule iminyaka eli-10 ukuya kweli-15 kwaye ngelo xesha, ndibone ukukhula okumangalisayo kwindlela esicinga ngayo nokuqonda i-pathophysiology, sisebenzise oko ekuchongeni ii-biomarkers ezintsha.
Kwaye ndibone ukukhula okumangalisayo komdla weenkampani zamayeza ekunyangeni i-ataxias. Ngoko ke ndicinga ukuba loo mxube uza kuba mnandi kakhulu xa usiya phambili. Kwaye ukongeza, uthatha konke oko kukhula [00:02:00] esikubonayo kwi-ataxia, uze uphose impumelelo eye yenzeka kwezinye iindawo ngokubhekiselele kunyango lwezakhi zofuzo.
Ngoko ke le ngcinga yokuba ezinye izifo zinokuba nonyango lwezakhi zofuzo oluzinyanga ngempumelelo, andiboni ukuba kutheni singenakukwazi ukufumana unyango olufanayo kungekudala kwihlabathi le-ataxia. Kwaye ekugqibeleni, enye into endiyonwabele kakhulu malunga nethemba le-ataxia kukuvunywa kwe-omaveloxolone kwi-ataxia kaFriedrich. Ngoko ke ndicinga ukuba oko kunye zizizathu ezininzi zokuba nethemba.
UProfesa uOrlando Barsottini: Ewe. Njengoko utshilo kutshanje, i-omaveloxolone yavunywa kwi-Friedrich's ataxia. Ungasixelela okungakumbi ngale chiza? Kwaye umbuzo wam wesibini kule ngongoma, ingaba eli chiza liboniswe kuzo zonke izigulane ezine-Friedreich's ataxia okanye sifuna ukhetho oluthile lwezigulane?
UDkt. Liana Rosenthal: [00:03:00] Ngoko ke ndicela ukukuxelela kancinci malunga neyeza, kwaye andifuni ukuxinwa kakhulu yindlela esebenza ngayo incoko, kodwa ndicinga ukuba iluncedo kuba oku ndiyaqonda ukuba ukuqonda indlela esebenza ngayo yikona okusivumela ukuba sithi eli yeza liza kusebenza size silivavanye kwizigulana kwaye ngokuqinisekileyo, liyanceda.
Ngoko ke ndicinga ukuba loo ndlela ilungile kakhulu ukuba ucinge ngayo. Ngoko ke, kubantu abangenayo i-Friedreich's ataxia, kukho le protein ye-NRF2 kwaye xa isiya kwi-nucleus iya kuvula iindlela zokulwa nokuvuvukala. Singayishiya apho. Ngokucacileyo iyinkimbinkimbi kakhulu kunoko.
Kodwa okwenzekayo nangona kunjalo kukuba kubantu abane-Friedrich's ataxia, le protein iya kubola nto leyo ekhokelela ekwandeni koxinzelelo lwe-oxidative. Ngoko ke endaweni yokuya kwi-nucleus nokukhuthaza iindlela zokulwa nokuvuvukala, iya konakala kwaye ayizukwenza umsebenzi wayo. Kwaye i-omaveloxolone, sikholelwa ukuba iyayimisa le ntlekele.
Ngoko ke, ngo [00:04:00] ukuyeka ukuwohloka, iproteni inokuya kwi-nucleus ize yenze oko kufanele ukuba ikwenze. Ngoko ke kwakukho loo mvelaphi yesayensi isisiseko, kwaye ke ngoko kwafuneka udlulele kwizifundo zeklinikhi. Kwaye kolona phando lukhulu izigulane zophando lwe-MOXIe ezine-omaveloxolone zazingcono kwiiveki ezingama-48 kunezo zithatha i-placebo.
Kwaye babengcono besebenzisa i-mFARS, iModified Friedreich's Ataxia Rating Scale. Kwaye benza uhlalutyo olongezelelweyo. Akuphelelanga nje ekubeni izigulane zibe ngcono kwiiveki ezingama-48 zisebenzisa amayeza kunakwi-placebo. Ukongeza, kwabakho uhlalutyo lokuqala olulibazisekileyo olubonisa ukuba kwiiveki ezingama-72, abantu abasebenzisa i-omaveloxolone babengcono kune-placebo.
Kwaye benze uhlalutyo kunye nophando olude ngakumbi xa kuthelekiswa nedatha yembali yendalo. Kwaye kwakhona, abantu abasebenzisa amayeza babengcono kune-placebo. Kwaye ekugqibeleni, xa uyeka i-omaveloxolone, abanye abaguli baba mandundu. Ngoko ke ukuba udibanisa konke, ingcamango kukuba eli yeza libonakala linceda [00:05:00] ngokuqinisekileyo ngokweempawu kwaye kusenokwenzeka ukuba litshintsha isifo xa kuthelekiswa nabantu abane-Friedreich's ataxia, nto leyo enomdla kakhulu.
Okwangoku, ukuze ndifikelele kumbuzo wakho, ingaba iboniswe kuzo zonke izigulana, endicinga ukuba ngumbuzo obaluleke kakhulu. Okwangoku ivunyiwe kubantu abaneminyaka eli-16 nangaphezulu. Kwaye yiloo nto leyo ivunyiweyo kwi-FDA yase-US, eYurophu nakwamanye amazwe amaninzi, ndiyakholelwa. Kwaye oko kuya kufuneka ndikujonge. Okwangoku benza uphando lokujonga i-omaveloxolone kunye nabantu abaneminyaka emi-2 ukuya kweli-15.
Asizukuzazi iziphumo zolu phononongo ubuncinane iminyaka embalwa. Baqale ukubhalisa izigulane ngaphantsi konyaka ophelileyo. Ngoko ke asizukuzazi iziphumo zalo okwethutyana. Ngoko ke ndicinga ukuba kukho ingxoxo kwaye kukho ingxoxo efanelekileyo malunga nokubaluleka kokusetyenziswa kwe-omaveloxolone ngaphandle kweleyibhile kubantwana abangaphantsi kweminyaka eli-16, kodwa [00:06:00] ayisebenzi.
Iingxaki zigxile kakhulu ekusebenzeni kwesibindi, ngoko ke umbuzo uxhomekeke kwidosi. Ngowuphi umthamo ofanelekileyo ebantwaneni? Ukuqinisekisa ukuba asibangeli ngaphezu kokunyuka okwethutyana kuvavanyo lokusebenza kwesibindi, nto leyo siyaziyo ukuba iyeza linokubangela oku kunyuka okwethutyana kwi-LFTs. Kwaye ke ndicinga ukuba le yimibuzo malunga nokhuseleko ekufuneka ijongwe.
Kwaye ke ukusebenza kakuhle kwabantwana abancinci. Ndicinga ukuba umbuzo ngulo, abantu abakhululekileyo ngeyeza, ngaba bangakhululeka ukulinika umntu oneminyaka eli-14 okanye eli-15 ubudala? Kodwa ke umbuzo olandelayo, ewe, ngaba i-inshorensi ingagubungela loo nto? Ngoko ke ezo zihlobo zeengxaki ezenzekayo malunga nokusetyenziswa ngaphandle kweleyibhile.
Kodwa okwangoku ilungiselelwe abantu abaneminyaka eli-16 nangaphezulu.
UProfesa uOrlando Barsottini: Kulungile. Enkosi. Liana, ngoku sisiya kwi-spinocerebellar ataxias. Siyazi ukuba i-troriluzole ayizange ivunywe yi-[00:07:00] FDA. Ngaba ulindele ntoni malunga nokusetyenziswa kwe-antisense oligonucleotides kwi-ataxia? Ngaba sele sineziphumo ezilungileyo ngolu nyango?
UDkt. Liana Rosenthal: Ngoko ke, ngokolwazi lwam nge-ataxia, asinazo iziphumo ezilungileyo kwi-ASOs. Bekukho uphando lwe-SCA3 ASO oluye lwamiswa ngenxa yenkxalabo yokhuseleko. Ndinomdla kakhulu kwi-ASOs njengengcamango yonyango kwi-ataxia, kwaye kukho inani lezilingo ezahlukeneyo zeklinikhi eziqhubekayo ezibonakala ngathi zijongane nezinye zezi nkxalabo zokuqala zokhuseleko kwaye ziyaqhubeka.
Okwangoku, zisesekwinqanaba lokuqala, ngoko ke kunzima ukutsho ukuba ii-ASO ziza kuba nini ngokwenene unyango olunokwenzeka xa kuthelekiswa novavanyo lokuqala lwezonyango. Kodwa okwangoku ndichulumancile ngengcinga [00:08:00] yokuba kukho iinkampani ezininzi ezenza olu vavanyo lokuqala lwezonyango ngengcinga yokuba ii-ASO zinokuba lunyango oluhle kakhulu kwixesha elizayo.
UProfesa uOrlando Barsottini: Kulungile. Uyazi ukuba izigulane ezininzi ezine-ataxia zinokuba neempawu ze-cerebellar kunye ne-non-motion. Umzekelo, ezineengxaki zokulala, ukudinwa, i-neuropathy, kunye nokungasebenzi kakuhle kwengqondo. Ungasixelela ngendlela ojongana ngayo nezi mpawu?
UDkt. Liana Rosenthal: Ndicinga ukuba zimbalwa izinto ezibalulekileyo ngokubhekiselele ekulawuleni iimpawu. Eyokuqala kukubona iimpawu zokuba isigulana sinale ngxaki, kwaye uninzi lwezigulana aluqondi ukuba ukudinwa kwazo okanye i-neuropathy yazo okanye ukungasebenzi kakuhle kwengqondo kunxulumene ne-ataxia yazo.
Ngoko ke ndicinga ukuba inyathelo lokuqala kukubuza nje umbuzo kwizigulana nokwazisa isigulana ukuba, ewe, oku kusenokuba kunxulumene. Kwaye emva koko inyathelo elilandelayo [00:09:00] lazo zonke ezi mpawu endizama ukuzenza kukuba ndizame ukucinga ngazo kuqala ngempawu nganye, ingaba zimkhathaza kangakanani isigulana?
Ngaphezu koko, ichaphazela kangakanani na imisebenzi yabo? Kwaye ke, zeziphi zonke izinto esinokuzinyanga xa zinxulumene naloo mpawu. Ngoko ke nangona okwangoku singenakutshintsha i-pathophysiology esisiseko ye-ataxia yabo. Ezinye izigulana zineengxaki zokulala, kungekuphela nje ngenxa ye-ataxia yazo, kodwa nangenxa yezinye iingxaki.
Ngoko ke qiniseka ukuba ujonge kwaye ucinga ngazo zonke ezinye izizathu. Ngoko ke ngaba ujonge izinto ezifana ne-sleep apnea? Ngaba bayazilolonga? Kwi-neuropathy, ngaba baya kuzuza kwi-gabapentin? Ngaba baya kuzuza kwezinye iintlobo zamayeza? Kwi-cognitive disorder, ndisoloko ndichitha ixesha elininzi ndicinga ngazo zonke ezinye izinto. Ngoko ke izinto ezinobungozi bentliziyo, ngaba zilawulwa kakuhle yi-cholesterol, uxinzelelo lwegazi lulawulwa kakuhle. Ukuba banengxaki yokuva, ngaba [00:10:00] banxiba izixhobo zabo zokuva? Ngaba ukulahlekelwa kwabo kuviwe kwavavanywa? Ngaba sijonga neengxaki zokulala ngokubhekiselele kwi-cognitive dysfunction?
Ngaba sijonga iimpawu zemood kunye nemood ngokwemeko yokungasebenzi kakuhle kwengqondo kunye nomgangatho wobomi? Ngoko ke uninzi lwezi mpawu zinamayeza, ewe, esinokuwasebenzisa, kodwa siqinisekisa ukuba sicinga ngazo zonke ezinye izizathu. Ngoko ke nangona singenakukwazi ukunceda inxalenye ye-ataxia, ukuba sinokunceda ngezinye iipesenti ezi-5, ezili-10, ezingama-20 ezinegalelo kwimpawu, kuya kuyiphucula ubuncinane indlela isigulane esivakalelwa ngayo.
Yiyo loo nto ndicinga ngayo ngeempawu ezahlukeneyo, ndize ndifundise izigulane ukuba ngokwenene yinxalenye ye-ataxia yazo. Ngoko ke ndithanda ukuyicinga ngokupheleleyo ngaloo ndlela.
UProfesa uOrlando Barsottini: Liana, namhlanje siyazi ukubaluleka kokuzilolonga kwizifo ze-neurogenerative ezifana nesifo sikaParkinson kunye nesifo sika-Alzheimer. Kubaluleke ngantoni ukuzilolonga [00:11:00] kwizigulane ezine-ataxia, kwaye ngaba sinazo naziphi na iimvavanyo zeklinikhi eziqhubekayo ngalo mba okwangoku?
UDkt. Liana Rosenthal: Ngoko ke kubekho iimvavanyo ezininzi zeklinikhi ezijonga umthambo kwi-ataxia. Zimbini endisoloko ndithetha ngazo. Olunye uphando oluvela kuHopkins kwiqela lika-Amy Bastian kunye noJen Keller. Endikuthandileyo kakhulu ngolu phononongo, yayiliqela elincinci, kodwa into ebonise ngokuthe ngqo kukuba ubunzulu bomthambo bubalulekile.
Ngoko ke izigulane ezazifumanisa ukuba lo mthambo unzima kubo, zazincedakala ngakumbi, ngoko ke ndandithanda kakhulu ukuxoxa ngaloo nto nezigulane kuba ndicinga ukuba iyasebenza ngqo xa kufikwa ekubeni uqinisekisa ukuba uyazinyanzela. Ukuzinyanzela ngokukhuselekileyo yeyona nto iphambili apho, kodwa ukuzinyanzela, uza kufumana inzuzo engaphezulu kulo mthambo.
Olunye uphando endandiluvuyela kakhulu kuba [00:12:00] izigulane zihlala zibuza ukuba ndenze umthambo woluphi uhlobo? Kwaye ke olunye uphando yayiluphando olusandula ukuphuma kwiqela laseColumbia lupapashwe kwiJAMA ngo-2025, ngoko ke kunyaka ophelileyo. Kwaye into eyayinomdla ngaloo nto kukuba yayijonga unyango lokuzilolonga ekhaya. Ngoko ke uqeqesho lwe-aerobic olusebenza ekhaya, olunamandla aphezulu xa luthelekiswa noqeqesho lokulinganisela. Kwaye yayingabantu abangama-62. Ngoko ke yayilinani elifanelekileyo labantu. Kwaye into abayifumeneyo kukuba uqeqesho lwe-aerobic lufumene uphuculo olukhulu kumanqaku okulinganisela alinganayo xa kuthelekiswa noqeqesho lokulinganisela.
Kwaye ngokuqinisekileyo singahlala apha sixoxe, ngexesha elahlukileyo zonke izinto ezifunyenweyo kunye nendlela endingagcina ngayo ukuba uqeqesho lokulinganisela lubalulekile kwaye uqeqesho lokulinganisela lunokuba luncedo kwizigulane zethu. Ikwathetha ngokubaluleka kokuzilolonga nge-aerobic kwaye kwakhona, ngokucela abantu umngeni ngokuzivocavoca kwabo nge-aerobic. Kwaye enye into efunyenwe luphando lwe-JAMA, endicinga ukuba ibaluleke kakhulu, kukuba [00:13:00] ukunamathela rhoqo kuqeqesho kwakubaluleke kakhulu ukugcina izibonelelo.
Ngamanye amazwi, nokuba phakathi kwabantu abazilolonga kakuhle kwiinyanga ezintandathu zokuqala, ukuba bayekile ukuzilolonga, iingenelo ziyancipha. Kodwa abantu abaqhubeka bezilolonga baye baqhubeka begcina iingenelo zaloo mthambo. Ngoko ke oku kuthetha into endicinga ukuba uninzi lwethu luyixelela izigulane zethu, nto leyo ebaluleke kakhulu ukuba uqhubeke uzilolonga kwaye kufuneka uyenze rhoqo, kwaye kufuneka uyenze ngamandla afanelekileyo.
Kwaye ndicinga ukuba ezi ziingcinga ezibalulekileyo kwaye kusoloko kukho ezinye iindlela zonyango ezisekelwe ekuzilolongeni endizibonayo. Ukuba ujonge kwi-, ukuba u-look@clinicaltrials.gov, kusoloko kukho ezinye izifundo ezimbalwa ezongezelelweyo zokuzilolonga, kodwa zonke ngokusisiseko zithetha loo ngcamango inye, nto leyo intle kakhulu.
UProfesa uOrlando Barsottini: Liana, siyazi ukuba ukuvuselelwa kwengqondo okungenayo nekungekho yingozi yinto ethandwayo kwicandelo leengxaki zokunyakaza. Ngokoluvo lwakho, yintoni indima yakho ekuvuseleleni ingqondo okungenayo okanye okungangenisi [00:14:00] kwizigulana ezine-cerebellar ataxia kwaye kumbuzo wam othile, zikhuselekile kangakanani ezi ndlela zonyango kwizigulana ezine-ataxia?
UDkt. Liana Rosenthal: Ngoko ke ndicinga ukuba zikhuselekile. Ndicinga ukuba kufuneka senze uphando oluninzi ukuze siphendule loo mbuzo ngokwenene. Masicacise. Oko ndikuboneyo ukuza kuthi ga ngoku kuyakhuthaza kakhulu, ndingathi, malunga nokuba zikhuselekile. Kwaye ndicinga ukuba umbuzo ekufuneka siwufumanise, unxulumene nokusebenza kakuhle kunye nendlela yokwenza ngcono ukusebenza kakuhle. Njengoko usazi, e-Orlando, kukho izifundo ezilungileyo ezijonga i-TMS kwi-ataxia, ngoko ke ukukhuthazwa kwe-transcranial magnetic. Kukwakho nezifundo ezithile ezijonga ukukhuthazwa kwamandla ngqo, kwaye kukho iimvavanyo ezimbalwa ezincinci ezenza i-dentate nucleus DBS. Kwaye kuzo zonke ezi zifundo, izifundo ze-TMS ngokukodwa [00:15:00] kunye nezifundo ze-dentate nucleus ezincinci kakhulu, zibonisa ukuphucuka kumanqaku e-SARA kunye namanye amanqaku kunye nokuphucuka kwi-cerebellar tremor.
Kodwa kufuneka sifunde indlela yokuyenza ngcono, kwaye kufuneka sifunde ukuba kutheni isebenza. Kwaye ndivuya kakhulu ngengcinga yokulinganisa i-transcranial direct current. Idatha ngaloo nto ngoku iyaguquguquka ngakumbi. Ndisacinga ukuba nganye kwezi inendima ekufuneka iyidlale kunyango lwethu lwezigulane. Sidinga nje ukuyiqonda ngcono, kwaye kufuneka sikwazi ukujonga ngcono ukusebenza kwayo kunye nokhuseleko lwayo.
UProfesa uOrlando Barsottini: Liana. Ngoku kukho omnye umxholo oshushu. Yintoni ukubaluleka kwee-biomarkers, kwanee-neuroimagings ze-biofluid ekujongeni impendulo yonyango okanye ukuqhubela phambili kwesifo?
UDkt. Liana Rosenthal: Ngoko ke ndicinga ukuba njengoko usazi, e-Orlando, ukulinganisa okuchanekileyo kuyafuneka ngokwenene. Ndicinga ukuba, okwangoku sinabagqatswa abalungileyo [00:16:00] beempawu zokuqhubela phambili kwesifo. Kwiimeko ezininzi ze-ataxia, sinethamsanqa kuba iimpawu zokuxilonga azizo ezifunekayo kwaye uvavanyo lwemfuza lunokusixelela ukuba isigulana sine-ataxia ethile yemfuza.
Ngoku ke, ingqiqo yeempawu zokuxilonga ze-ataxia yemfuza zininzi zazo. Ndicinga ukuba, njengoko sifunda ngakumbi kwaye sichonga ii-genes ezintsha, siza kufumana iimpawu zokuxilonga ezingaphezulu. Kuba inkqubela phambili kulapho iqala khona ukubaluleka. Sinabagqatswa abalungileyo, ngoko ke sinezinto ezifana nobukhulu be-pons ezibonakala ngathi yindlela elungileyo yokulinganisa inkqubela phambili yesifo kwimifanekiso.
Kukwakho nezinye iindlela zokulinganisa ezinomdla ze-MS kwimifanekiso esinokuzijonga ukuze sibone inkqubela phambili, ndicinga ukuba zinomdla kakhulu. Kwaye ke amanqanaba e-NFL ngokwee-biomarkers ze-biofluid. Kwakhona kunomdla kakhulu. Into enomdla ngamanqanaba e-NFL kukuba, njengoko eza kunyuka ngaphambi kokuxilongwa kwaye [00:17:00] ngaphambi kokuba iimpawu ziqale, emva koko zibonakala zizinza kancinci.
Ngoko ke ezo zisenokungabi zezona nkqubela phambili zibalaseleyo, kodwa zisenokuba ziimpawu ezilungileyo zokubandakanyeka ekujoliswe kuzo. Ngoko ke ndicinga ukuba kulapho omnye umbuzo onomdla ungena khona. Ndicinga ukuba i-objective biomarker yenye yezinto ezibalulekileyo esizidingayo. Ii-biomarker ezininzi, mhlawumbi ezijolise kuzo zezona zinto zibalulekileyo esizidingayo ukuze siphuhlise unyango ngokukhawuleza.
Ngoko ke siyafika apho nangona senza inkqubela phambili koku. Thina njengoluntu kunye neearhente zolawulo asikadibani, siza kwamkela ezi mpawu njengee-endpoints kwaye ke ndicinga ukuba yinxalenye yento sonke ekufuneka sisebenzele kuyo.
UProfesa uOrlando Barsottini: Kulungile. Enkosi. Liana, lo ngumbuzo wam wokugqibela. Mhlawumbi ngumbuzo onzima kakhulu, kodwa yintoni efunekayo ukuze kuqiniswe uphuhliso lwezonyango ezintsha? Kwaye undixelele ngakumbi ngembono yakho ngekamva.
UDkt. Liana Rosenthal: Ndicinga ukuba [00:18:00] kukho izinto ezininzi ezifunekayo, kwaye ndicinga ukuba eyona nto ibalulekileyo kukuba singazenza njani ezi zinto ngaxeshanye? Singaqinisekisa njani ukuba sisebenza kuzo zonke kwaye sizenze zihambelane kakuhle. Ngoko ke ndicinga ukuba izinto ezimbalwa esizidingayo ngokwenene ezinobuzaza neziqinisekisiweyo, ligama eliphambili apho, amanyathelo esiphumo esinokuwajonga kwizilingo zeklinikhi. Kwaye la manyathelo esiphumo aqinisekisiweyo kufuneka amkelwe zimibutho elawulayo. Ngokuphathelele, amanqaku esiphelo kwezi zilingo zeklinikhi. Ngoko ke kuyinto ejikelezayo, kodwa sifuna amanqaku esiphelo aqinisekisiweyo ukuze amkelwe ukuze avavanywe, kwaye kufuneka sikwazi ukuqhubela phambili kuloo nto kuba ndicinga ukuba sinabaviwa abalungileyo, ngakumbi ngokubhekiselele ekubandakanyekeni ekujoliswe kuko. Enye into endicinga ukuba siyidinga kukuba sifuna uyilo oluzilungelelanisayo ngakumbi. Ngoko ke ngakumbi kwezi zifo zingaqhelekanga, apho kukho inani eliphezulu lezigulana eziza kuthi. [00:19:00] Olu yilo lovavanyo oluhambelanayo, izinto ezifana nezifundo zeqonga kunye nezinye iindlela zoyilo, ziya kuvumela ngokwenene ukuba iindlela ezininzi zokungenelela zivavanyelwe ngokufanelekileyo, kodwa ukuze siphucule ngokwenene ukusebenza kakuhle, kwakhona, siyawadinga la manyathelo esiphumo.
Ngoko ke konke oko kuya kubuyela umva kwaye sisebenza ekuqondeni ngcono i-pathophysiology yesi sifo, kwaye yiyo loo siseko yesayensi esisiseko eya kuthi isixelele ukuba zeziphi iziyobisi ekufuneka sizivavanye mhlawumbi nangona kunjalo ezihambelana neziphumo zokulinganisa. Kuba amayeza ahlukeneyo anokusebenza ngeendlela ezahlukeneyo zokunceda ukukhokela ukuba zeziphi iziphumo zokulinganisa kunye neempawu zebhayomarker esifuna ukuzisebenzisa.
Konke oku ngexesha siqinisekisa ukuba imibutho elawulayo iyakwamkela oko sikwenzayo malunga nokuvunywa kwamayeza ekugqibeleni. Ukuba loo mpendulo inzima, mhlawumbi. Kodwa ndicinga ukuba kulapho siya khona kwaye ndicinga ukuba singenza zonke ezo zinto kunye ukuze sifumane unyango olutsha kwixesha elizayo.
Ngoko ke ndinethemba lokubuyela kumbuzo wakhe wokuqala, kodwa ndisacinga ukuba [00:20:00] kukho umsebenzi omninzi ekufuneka wenziwe.
UProfesa uOrlando Barsottini: Enkosi, Liana, ngokwabelana ngezi mbono kwaye enkosi kubaphulaphuli bethu ngokujoyina nathi. Siyathemba ukuba esi siqendu siya kukunceda ufikelele kunyango lwe-ataxia ngokuzithemba okukhulu kunye nenkqubo. Enkosi.
UDkt. Liana Rosenthal: Enkosi ngokundibona. Bekumnandi kakhulu ukuthetha nawe.

ULiana S. Rosenthal, MD, PhD
Johns Hopkins School of Medicine
Baltimore, MD, USA






