Ukubheka ngokucophelela i-Spinal Cerebellar Ataxia,
Sibutsetelo
Lapho abantu bexoxa nge-spere cerebellar ataxia (SCA), empeleni babhekisela eqenjini lezinkinga ezibangelwa yi-neurodegenerative ezibangelwa ukuqhuma okuqhubekayo. Kunezinhlobo ezingaphezu kuka-35 ezahlukene zama-ataxias omgogodla we-spinal, ngamunye obangelwa ukushintshashintsha kofuzo oluhlukile. Ngaphezu kwalokho, amafomu amasha aqhubeka etholakele.
Naphezu kokuhlukahluka okungafani kakhulu, i-SCA empeleni ingavamile kakhulu.
Noma kunjalo, ingenye yezimbangela ezivame kakhulu ze-ataxia yezakhi. Ngisho phakathi kwabantu abangenalo umlando womndeni abakha i-ataxia ngaphandle kwesinye isizathu esicacile, ukushintshwa okusha kwe-SCA kungatholakala ngamaphesenti angu-20 esikhathi.
Izimbangela
I-SCA ingenxa yokuguqulwa kwezakhi zofuzo. Izinhlobo eziningi zibangelwa okuthiwa ukuguqulwa kwezandiso, lapho izinombolo eziningana ze-nucleotide (ngokuvamile i-cytosine, i-adenosine, ne-guanine) ziphindaphinda okungaphezu kokutholakala kubantu abanempilo. Ngendlela evamile ehilela ukuphindaphinda kwe-nucleotide, lokhu kubizwa ngokuthi i-trinucleotide iphinda. Umphumela wukuphindaphindiwe wukuthi uhlobo lweprotheyini oluguquguqukayo luboniswa, okuholela ezibonisweni zesifo.
I-ataxia ye-spinocerebellar ngokuvamile izuzwe njengefa elihle kakhulu , okusho ukuthi uma omunye wabazali ene-disorder, kungenzeka ukuthi cishe ngamaphesenti angu-50 ukuthi ingane izoba nesifo.
Njengoba igama elithi spinocerebellar ataxia liphakamisa, lesi sifo sidabukisa i-cerebellum nokuningi.
I-brainstem ingasusa futhi (i-atrophy), ikakhulukazi kwi-SCA izinhlobo 1, 2, no-7. Izifunda ze-atrophy zivame ukulawula ukunyakaza kwamehlo, okuholela ekutholeni okungavamile uma isazi sezinzwa senza ukuhlolwa komzimba.
Isibikezelo
I-ataxias ye-Spinocerebellar ngenxa yokuphinda izakhi zanda ngokunyuka ngokuvamile zigula egangeni eliphakathi.
Ngaphezu kokuthola i-ataxia, ezinye izinto ezitholakele ngegazi zivame ukuvela kuye ngokuhluka kwe-SCA. Ngokuvamile, isikhathi esiningi sokuphindaphindiwe, isiguli esincane siyoba lapho izimpawu zifika, futhi ngokushesha ukukhula kwesifo.
Ngokuvamile, uhlobo lwe-SCA lu-1 luhlukume kakhulu kunezinhlobo ezimbili noma ezintathu, futhi uthayipha u-6 yi-SCA encane enobudlova ngenxa yokuphindaphinda kwe-trinucleotide. Asinalo ulwazi oluningi kwezinye izinhlobo zama-ataxias we-spinocerebellar, kodwa abantu abaningi bayodinga isitulo sabakhubazekile eminyakeni engu-10 kuya kwengu-15 emva kokuba izimpawu zivele. Nakuba izinhlobo eziningi ze-SCA zifinyeza isikhathi sokuphila, lokhu akunjalo njalo.
Ukwelapha
Ayikho ikhambi ye-SCA. Imithi efana ne-zolpidem noma i-varenicline iye yasikisela ukusiza i-ataxia ku-SCA hlobo 2 no-3 ngokulandelana.
Izinhlobo
SCA1
I-SCA1 ibangela amaphesenti angu-3 kuya kwangu-16 ama- ataxias aphezulu we- autereomal. Ngaphezu kwe-ataxia, i-SCA1 ihlotshaniswa nobunzima bokukhuluma nokugwinya. Ukucabanga okukhulayo nakho kuvamile. Ezinye iziguli nazo zihlakulela ukushaywa kwemisipha.
Ukuguqulwa kwe-SCA1 yi-trinucleotide ephindaphinda esifundeni esibizwa ngokuthi i-ataxin 1. I-ataxin eguquguqukayo 1 ihlanganisa ndawonye emasethini, futhi ingashintsha ukuthi amangqamuzana e-nerve ahumusha kanjani amakhodi azo. Lokhu kuyiqiniso ikakhulukazi kumaseli we-cerebellum.
SCA2
Amaphesenti angu-6 kuya kwangu-18 abantu abane-spinocerebellar ataxia bane-SCA2. I-SCA 2 ibangela nezinkinga zokuxhumana kodwa futhi kubangelwa ukunyakaza kwe-iso kancane. Ezimweni ezimbi, i-SCA 2 ingabangela ukubambezeleka kokuthuthukiswa, ukugabha, nokuhlupheka ukugwinya ngisho nasebusaneni.
I-SCA2 ibangelwa enye i-trinucleotide ephindaphinda, okwamanje ihlanganisa ikholomu okuthiwa i-ataxin 2. Nakuba i-SCA1 ithinta i-nucleus yeseli ne-DNA, i-SCA2 ibonakala ithinta i-RNA futhi iqoqa ngaphandle kwe-nucleus.
I-SCA2 ibonisa ukuthi abantu abahlukehlukene bangabhekana kanjani nezimpawu ezehlukene ngisho noma benokushintshashintsha okufanayo. Umndeni wase-Italy onesi-SCA2 uhlaselwe ingqondo, futhi imikhaya evela eTunisia iye yahlupheka nge-chorea ne- dystonia .
SCA3
I-SCA3, eyaziwa kangcono ngokuthi i- Machado-Joseph isifo , i-SCA evelele kakhulu ye-autosomal, ephakathi kwama-21 kuya kwangu-23 amaphesenti we-SCA e-United States. Ngaphandle kwe-ataxia, iziguli ezineMachado-Joseph zinezinyathelo zokuhamba kancane futhi kunzima ukugwinya. Ukukhubazeka kwengqondo kungase kwenzeke, njengoba kungenza i- dysautonomia . Ekuhlolweni kwesifo sezinzwa, iziguli ezine-SCA3 zingase zibe nengxube ye-neuron engaphezulu nephansi ephakamisayo ye- amyotrophic lateral sclerosis .
I-SCA 4 no-5
Lezi fomu azivamile futhi azikho ngenxa yokuphindaphinda kwe-trinucleotide. I-SCA4 ingaba neuropathy ye- peripheral , kodwa kuyiqiniso kwamanxias amaningi ase-spinocerebellar. I-SCA5 ayinakho ezinye izimpawu kune-ataxia. I-SCA5 ivame ukuba mnene futhi iqhubeke kancane. Ngokuthakazelisayo, ukuguqulwa kokuqala kubonakala sengathi kwavela koyisekazi kababa ka-Abraham Lincoln.
I-SCA6
I-SCA6 ibhalela amaphesenti angu-15 kuya kwangu-17 we-SCA. Ukuguqulwa kwesigcawu kuhlotshaniswa ne-atisosi ye-episodic nezinye izinhlobo ze-migraine. Ngaphezu kwe-ataxia, ukunyakaza okungakajwayelekile kwelanga okubizwa ngokuthi i- nystagmus ingabonakala ekuhlolweni kwegazi.
SCA7
I-SCA7 ibandakanya amaphesenti angu-2 ukuya kwangu-5 kuphela ama-ataxias e-autinoomal aphezulu. Izimpawu zixhomeke ekuguleni kwesiguli kanye nobukhulu bokuphinda. Ukulahlekelwa ngombono ngezinye izikhathi kuhlotshaniswa ne-SCA7. Kubantu abadala, lokhu kulahlekelwa kombono kungahle kwenzeke ngaphambi kwe-ataxia. Uma i-trinucleotide iphinda ibuyele isikhathi eside, ukulahleka kombono kungafika kuqala Ekuqaleni, ukugula kanye nesifo senhliziyo kuvela ne-ataxia nokulahlekelwa kombono.
Ngenxa yokuthi yonke i-ataxias ye-spinocerebellar ayinasidingo, angiyikuxoxa nabo nganoma iyiphi imininingwane. Esikhathini esiningi, izimpawu kunzima ukuhlukanisa kwamanye ama-SCA esiwafakile kakade, kodwa ukuguqulwa kwezakhi zofuzo kuhlukile.
Isibonelo, i-SCA8 ibukeka kakhulu njengenye i-SCA kodwa ingavamile kulokho kunokuba izinto zibe zimbi nakakhulu ngokuphindaphindiwe kwe-trinucleotide, kuyinkinga kuphela uma kuphinda kube nokuphindaphinda kuka-80 kuya ku-250. Okungaphezulu noma ngaphansi akubonakali ukudala inkinga. I-SCA10 yi-pentanucleotide ephindaphinda esikhundleni sokuphindaphinda kwe-trinucleotide. Ezinye zalezi zinkinga, njenge-SCA25, zichazwe kuphela emndenini owodwa.
Amanye ama-Spinocerebellar Ataxias
Nakuba i-ataxia ye-spinocerebellar engavamile, kubalulekile ukuthi izazi ze-neurologists neziguli zicabangele lokhu kuhlolisiswa uma kunomlando womndeni wezinhlanzi. Ukuxilongwa kwe-SCA kungase kube nomthelela obalulekile hhayi nje kumuntu okhutshwe ngokushesha, kodwa nomndeni wabo kanye.
Imithombo
Geschwind DH, Perlman S, Figueroa CP, et al. Isisindo somtholampilo nokubanzi emtholampilo we-spinocerebellar ataxia uhlobo lwe-trinucleotide eliphindaphinda ngeziguli ezine-autosomal i-ataxia ephezulu ye-autereomal. Am J Hum Genet 1997; 60: 842.
UMoseley ML, uBenzow KA, Schut LJ, et al. Ukwenzeka kwe-spinocerebellar ne-Friedreich kathathu okuphindaphindiwe phakathi kwemindeni engu-361 i-ataxia. I-Neurology 1998; 51: 1666.
Ranum LP, uLundgren JK, Schut LJ, et al. I-spinocerebellar i-ataxia uhlobo lwe-1 ne-Machado-Joseph isifo: izibalo ze-CAG ukuhlaziywa phakathi kweziguli zabantu abadala abadala be-ataxia ezivela emindenini engu-311 ene-atxia ephezulu, ephindaphindiwe noma elula. Am J Hum Genet 1995; 57: 603.
Storey E, du Sart D, uShaw JH, et al. Ukuvama kwezinhlobo ze-ataxia ze-spinocerebellar 1, 2, 3, 6, no-7 kuziguli zase-Australia ezine-spinocerebellar ataxia. Am J Med Genet 2000; 95: 351.