Khangela ngakumbi kwi-Spinal Cerebellar Ataxia,
Sibanzi
Xa abantu bexoxa nge-acere cerebellar ataxia (SCA), ngokuqinisekileyo babhekisela kwiqela leengxaki ezibangelwa yi-neurodeergenerative ezibangelwa ukuhluma okuqhubekayo. Kukho iintlobo ezingaphezu kwama-35 ze-ataxias yomgudu we-spere cerebellar, ngasinye esibangelwa ukuguqulwa kohlobo oluthile. Ukongezelela, iifom ezintsha ziyaqhubeka ziyafumaneka.
Nangona kukho ukuhlukahluka kakhulu, i-SCA yinto enqabile kakhulu.
Nangona kunjalo, yenye yezona zizathu eziqhelekileyo ze-ataxia yezofuzo. Ngaphandle kwabantu abangenabo imbali yentsapho abahlakulela i-ataxia ngaphandle kwesinye isizathu esicacileyo, ukutshintshwa kwe-SCA entsha kungafumaneka malunga neepesenti ezingama-20 zexesha.
Izizathu
I-SCA ingenxa yokuguquka kwemfuyo. Zininzi iintlobo ngenxa yezinto ezibizwa ngokuba yi-nucleotide ezininzi (ngokuqhelekileyo i-cytosine, i-adenosine kunye ne-guanine) ziphinda ngaphezulu kunokuba zifumaneka kubantu abanobuchopho. Ifom eqhelekileyo equka i-nucleotide ephindaphindiweyo, oku kubizwa ngokuba yi-trinucleotide. Isiphumo soluphindaphinda kukuba uhlobo lweprotheni oluguquguqukileyo luboniswa, olukhokelela kwimpawu zesifo.
I-spinocerebellar ataxia idla ilifa kwi- autosomal fashion fashion, oku kuthetha ukuba ukuba omnye wabazali unenkinga, kukho ithuba elingamaphesenti angama-50 ukuba umntwana uya kuba nesifo kwakhona.
Njengoko igama elithi spinocerebellar ataxia lisikisela, eso sifo sibandezela i-cerebellum kunye nokunye.
I-brainstem ingashenxisa (i-atrophy), ngokukodwa kwi-SCA iintlobo 1, 2, kunye no-7. Iimimandla ze-atrophy zihlala zilawula ukuhamba kwamehlo, ezikhokelela kwiziphumo ezingavamile xa i-neurologist yenza uvavanyo lwayo lwenyama.
Prognosis
I-ataxias ye-spinocerebellar ngenxa yokuphinda utshintsho olwandisiweyo ludla ngokugula kwisigaba esiphakathi.
Ukongeza kwi-ataxia, ezinye iziphumo zeengxaki zegazi zisoloko zikhona ngokuxhomekeka kwi-SCA. Ngokubanzi, ixesha elide liphindaphinda, umncinci uya kuba xa kufika iimpawu, kwaye ngokukhawuleza ukukhula kwesifo.
Ngokubanzi, uhlobo lwe-SCA lu-1 lunamandla ngaphezu kweentlobo ezi-2 okanye ezi-3, kwaye udidi lwesi-6 yi-SCA encinci yintlonelo ngenxa yokuphindaphinda kwe-trinucleotide. Asinalo ulwazi oluninzi kwezinye iintlobo ze-ataxias ze-spinocerebellar, kodwa abaninzi abantu baya kufuna i-wheelchair 10 ukuya kwe-15 emva kokuba iimpawu zifike. Nangona iifom ezininzi ze-SCA zinciphisa ubomi, oku akusoloko kunjalo.
Unyango
Akukho nonyango ye-SCA. Kuye kucetyiswa ukuba kunikezelwe imithi efana ne-zolpidem okanye i-varenicline ukunceda i-ataxia kwi-SCA hlobo 2 kunye no-3 ngokulandelanayo.
Iintlobo
SCA1
I-SCA1 ibangela ama-3 ukuya kwe-16 ekhulwini kwi- ataxias ye-autereomal. Ukongeza kwi-ataxia, i-SCA1 inxulumene nobunzima bokuthetha nokugwinya. Ukwanda kweengcamango ziqhelekile. Ezinye izigulane nazo zihlakulela ukutshabalalisa imisipha.
Ukuguqulwa kwe-SCA1 yi-trinucleotide ephindaphinda kwingingqi ebizwa ngokuba yi-ataxin 1. Ifomu ye-ataxin eguqulwayo 1 idibanisa ndawonye kwiiseli, kwaye ingatshintsha indlela iiseli ze-nerve ziguqulela ngayo iikhowudi zazo zofuzo. Oku kuyinyaniso ngakumbi kwiiseli ze-cerebellum.
SCA2
Amaphesenti angama-6 ukuya kwe-18 abantu abane-spinocerebellar ataxia bane-SCA2. I-SCA 2 ibangela neengxaki zokunxibelelana kodwa kubangela ukunyuka kwamehlo okwehla. Kwiimeko ezinzima, i-SCA 2 ingabangela ukubambezeleka kokuphuhliswa, ukuxhatshazwa, kunye nobunzima bokugwinya kwintsana.
I-SCA2 ibangelwa enye i-trinucleotide iphinda, ngoku idibanisa iprotheyini ebizwa ngokuba yi-ataxin 2. Nangona i-SCA1 ithintela i-nucleus yeseln kunye ne-DNA, i-SCA2 ibonakala ichaphazela i-RNA kwaye iqokelela ngaphandle kwe-nucleus.
I-SCA2 ibonisa indlela abantu abahlukileyo abanokufumana ngayo iimpawu ezahlukileyo nangona banokuguqulwa okufanayo. Intsapho yaseNtaliyane ene-SCA2 iye yahlutha ingqondo, kwaye iintsapho zaseTunisia ziye zahlushwa i-chorea kunye ne- dystonia .
SCA3
I-SCA3, eyaziwa ngokuba yi- Machado-Joseph , isona sikhulu se-autosomal SCA, esenza phakathi kwama-21 ukuya kuma-23 ekhulwini le-SCA e-United States. Ukongeza kwi-ataxia, izigulane ezineMachado-Joseph zihamba ngokunyamekela kwamehlo kunye nobunzima bokugwinya. Ukukhubazeka kwengqondo kungase kwenzeke, njengokuba unakho idysautonomia . Kuvavanyo lwe-neurologist, izigulane ezine-SCA3 zinokuba nomxube we-motor neuron ophezulu kunye nezantsi ophawulayo isicatshulwa se- amyotrophic lateral sclerosis .
SCA 4 no-5
Ezi fom aziqhelekanga kwaye azikho ngenxa ye-trinucleotide ephinda. I-SCA4 ingaba neuropathy ye- peripheral neuropathy , kodwa yinyaniso yezona-atxias ezininzi ze-spinocerebellar. I-SCA5 ayiphantse enye enye impawu kune-ataxia. I-SCA5 ihlala ilula kwaye ihamba kancane. Okuthakazelisayo, ukuguqulwa koqobo kwangoko kubonakala kuvela kootata-ntata ka-Abraham Lincoln.
SCA6
I-SCA6 ibhalwa ngama-15 kuya kwe-17 ekhulwini le-SCA. Ukuguqulwa kwentsholongwane kusemzimbeni kudibanisa ne-atazosia ye-episodic kunye neentlobo ze-migraine. Ukongeza kwi-ataxia, ukunyuka kwamehlo okungaqhelekanga okubizwa ngokuba yi- nystagmus ingabonakala kwi-eurological examination.
SCA7
I-SCA7 ibandakanya i-2 ukuya kwe-5 ekhulwini ye-autosomal i-ataxias e-spinocerebellar ephezulu. Iimpawu zixhomekeke kwiminyaka yesigulane kunye nobukhulu bokuphinda. Ukulahleka kombono ngamanye amaxesha kudibaniswa ne-SCA7. Kubantu abadala, le ntlupheko yombono ingafika phambi kwe-ataxia. Ukuba i-trinucleotide iphinda ide, ukulahleka kombono kunokuqala kuqala Ekubuntwaneni, ukuxhatshazwa kunye nesifo senhliziyo kuza kunye ne-ataxia kunye nokulahleka kombono.
Ngenxa yokuba zonke ii-ataxias ze-spinocerebellar ziyinqabileyo, andiyi kuxoxa ngazo nayiphi na inkcukacha. Uninzi lwexesha, iimpawu zinzima ukuhlula kwezinye i-SCAs esiye sithe sagubungela, kodwa ukuguquka kwemfuyo kuyahluka.
Ngokomzekelo, i-SCA8 ibonakala kakhulu njengenye i-SCA kodwa ayiqhelekanga kunokuba izinto zibe zibi kakhulu ngokuphindaphindiweyo kwe-trinucleotide, yinkathazo kuphela xa kukho ukuphindaphinda kwama-80 ukuya kuma-250. Okungaphantsi okanye ngaphantsi kubonakala ingenzi inkinga. I-SCA10 i-pentanucleotide iphinda iphinda ibuye i-trinucleotide kwakhona. Ezinye zezi ngxaki, njenge-SCA25, zichazwe kuphela kwintsapho enye.
Ezinye i-Spinocerebellar Ataxias
Nangona i-spinocerebellar ataxia ingaqhelekanga, kubalulekile ukuba ama-neurologists kunye nezigulana ziqwalasele olu xilongwe ukuba kukho imbali yentsapho yokuxhamla. Ukuxilongwa kwe-SCA kunokubakho impembelelo ebalulekileyo kungekhona nje umntu ochaphazelekayo ngokukhawuleza, kodwa nentsapho yabo yonke.
Imithombo
Geschwind DH, Perlman S, Figueroa CP, et al. Ubuninzi kunye nobubanzi bekliniki ye-spinocerebellar ataxia hlobo 2 i-trinucleotide iphinda kwizigulane ezine-autosomal cerebellar ataxia. U-J Hum Genet 1997; 60: 842.
UMosesley ML, uBenzow KA, Schut LJ, et al. Ingozi ye-spinocerebellar kunye neFriedreich ephindaphinda kathathu phakathi kweentsapho ezingama-361 ze-ataxia. Neurology 1998; 51: 1666.
Ranum LP, uLundgren JK, Schut LJ, et al. I-Spinocerebellar i-ataxia hlobo 1 kunye ne-Machado-Joseph isifo: iziganeko ze-CAG zihlawulelana phakathi kwezigulane ze-ataxia ezivela kuma-311 ezinentsapho ezine-dominic acid, eziphambili okanye eziphambili. InguJ Hum Genet 1995; 57: 603.
Storey E, du Sart D, uShaw JH, et al. Ukuphindaphinda kwama-spinocerebellar i-ataxia iintlobo 1, 2, 3, 6, kunye no-7 kwizigulane zase-Australia ezine-spinocerebellar ataxia. U-J Med Genet 2000; 95: 351.