Kunyatsoongorora Spinal Cerebellar Ataxia,
Overview
Apo vanhu vanotaura nezveperebheni cerebellar ataxia (SCA), ivo chaizvoizvo vari kureva boka revanosangana neurodegenerative rinokonzera kushungurudzika kunofambira mberi. Kune marudzi anopfuura 35 epepinal cerebellar ataxias, chimwe nechimwe chinokonzerwa nehutano hwakasiyana-siyana. Uyezve, mafomu matsva anoenderera mberi kuwanikwa.
Pasinei nokuti kune zvakawanda zvakasiyana-siyana, SCA inonyanya kushamisika.
Kunyangwe zvakadaro, ndicho chimwe chezvikonzero zvinowanzoita zve genetic ataxia. Kunyangwe pakati pevanhu vasina nhoroondo yemhuri vanokurudzira ataxia pasina chimwe chikonzero chakajeka, shanduko itsva yeCA inogona kuwanikwa inenge 20 muzana yenguva.
Zvinokonzera
SCA inokonzerwa neine genetic mutation. Mhando dzakawanda dzinokonzerwa nekududzirwa kwezvinhu zvinowedzera, mune imwe nucleotide (kazhinji cytosine, adenosine, uye guanine) inodzokorora kupfuura inowanika kuvanhu vane utano. Mune chimiro chinowanzobatanidza nucleotide nhatu dzinodzokorora, iyi inonzi trinucleotide inodzokazve. Mugumisiro wekudzokorora ikoko ndeyekuti mapuroteni akashandurwa anoratidzwa, zvichiita zviratidzo zvirwere.
Spinocerebellar ataxia inowanzotora nhaka mumutambo wemotokari , iyo inoreva kuti kana mumwe wevabereki ane chirwere ichi, pane anenge 50 mukana yekuti mwana achava nehosha yacho zvakare.
Sezvo zita rokuti spinocerebellar ataxia rinoratidzira, chirwere chinotambudza cerebellum nezvimwe.
Nhengo dzehutachiona dzinogonawo kuparadza (atrophy), kunyanya muCAA mhando 1, 2, uye 7. Nharaunda dzenharaunda yacho dzinowanzotungamirira kufamba kwemaziso, zvichiita kuti zviwanikwe zvisingawanzoitiki apo nyanzvi yezveuropiyo inoita kuongorora kwepanyama.
Prognosis
Spinocerebellar ataxias nekuda kwekudzokorora kushanduka kwekuchinja kunowanzova kurwara munguva yepakati.
Mukuwedzera pane ataxia, mamwe maitiro emagetsi anowanzovapo zvichienderana nekusiyana kweSCA. Nenzira yakawanda, nguva yakanyanya kudzokorora ndeyekuti, muduku murwere achavapo apo zviratidzo zvinouya, uye kukurumidza kukura kwechirwere.
Nenzira yakawanda, SCA rwiyo 1 rune utsinye kune marudzi maviri kana matatu, uye rwiyo 6 ndiyo inonyanya kutyisa SCA nekuda kwekudzoka kwetrucleotide. Hatina ruzivo rwakawanda pamusoro pemamwe marudzi e spinocerebellar ataxias, asi vanhu vazhinji vachada girachairi makore gumi kusvika ku15 mushure mokunge zviratidzo zvikauya. Kunyange zvazvo maitiro akawanda eCAA achipfupisa upenyu, izvi hazvisi nguva dzose.
Kurapa
Ikoko hakuna mushonga weCA. Mishonga yakadai sairopidem kana varenicline yakarongedzerwa kubatsira iyoxia muCAA type 2 uye 3 maererano.
Aina
SCA1
SCA1 inokonzera kusvika 3 kusvika ku16 muzana yemotokari inoshandiswa yakawanda inonzi cerebellar ataxias. Mukuwedzera kune ataxia, SCA1 inosanganiswa nekutambudzika kutaura uye kumedza. Kuwedzera kwemafungiro kunewo zvakare. Vamwe varwere vanoitawo kuti musimba uparadze.
Kushandurwa kweCA1 inonzi trinucleotide inodzokorora mune imwe nzvimbo inonzi iyoxin 1. Iyo yakashandurwa yakafanana yeaatin 1 inobatana pamwe chete mumasero, uye inogona kuchinja masero emagetsi anoshandura mazita avo emagetsi. Izvi zvinonyanya kuitika mumasero e-cerebellum.
SCA2
Inenge 6 kusvika ku18 muzana yevanhu vane spinocerebellar ataxia vane SCA2. SCA 2 inokonzerawo matambudziko ekubatanidza asi inokonzera kushanya kwemaziso. Mumatambudziko akaoma, SCA 2 inogona kukonzera kukurumidza kufambira mberi, kugumburwa, uye kunetseka kumedza kunyange mucheche.
SCA2 inokonzerwa neimwe trinucleotide inodzokorora, ikozvino inokonzera puroteni inonzi iyoxin 2. Kunyange zvazvo SCA1 inokanganisa nucleus yesero neDNA, SCA2 inoratidzika inobata RNA uye inounganidza kunze kweropa.
SCA2 inoratidza kuti vanhu vakasiyana sei vanogona kutambura zviratidzo zvakasiyana-siyana kunyange kana vane mutauro mumwe chete. Imhuri yeItaly ine SCA2 yakatambura nekuora mwoyo, uye mhuri dzinobva kuTunisia dzakatambura chorea uye dystonia .
SCA3
SCA3, inonyatsozivikanwa seMachado -Joseph chirwere , ndiyo inowanzozivikanwa zvikuru yeAcosomal SCA, iyo iri pakati pe21 kusvika 23 muzana yeCA muUnited States. Mukuwedzera kune ataxia, varwere vane Machado-Joseph vanononoka kufamba maziso uye kunetseka kumedza. Kunetseka kwepfungwa kunogonawo kuitika, sezvinokwanisa dysautonomia . Pamuongorori weeurologist, varwere vane SCA3 vangave vane musanganiswa wepamusoro uye wepamusoro motokari yeuroni inowanikwa inofungidzira amyotrophic lateral sclerosis .
SCA 4 ne5
Izvozvi maitiro hazvisi zvishoma uye hazviiti nekuda kwetrinoucleotide kudzokorora. SCA4 inogona kuva neuropathy neuropathy , asi iyo ndeyechokwadi kune akawanda spinocerebellar ataxias. SCA5 haina kana imwe zviratidzo kupfuura iyoxia. SCA5 inowedzera kuva munyoro uye kufambira mberi zvishoma. Zvinofadza, kushanduka kwepakutanga kunoratidzika kwakabva kuna vanasekuru vababa vaAlbert Lincoln.
SCA6
SCA6 inoratidzira 15 kusvika ku17 muzana ye SCA. Kushandurwa kwemajeni ari mujeni kunosanganiswa ne episodic akaxia uye mamwe maitiro e-migraine. Mukuwedzera kune ataxia, kufamba kwemaziso kusina kujairika kunonzi nystagmus kunogona kuonekwa pamutsoropodzo rwemaurological.
SCA7
SCA7 inosanganisira 2 kusvika ku5 muzana yemotokari yakawanda inotarisa spinocerebellar ataxias. Zviratidzo zvinoenderana nezera remurwere uye ukuru hwekudzokorora. Kuona kurasikirwa dzimwe nguva kunobatanidzwa neCA7. Muvanhu vakuru, kurasikirwa uku kwemaono kunogona kuuya pamberi peatasia. Kana iyo trinucleotide ichidzokorora yakareba, kurasikirwa kwezviratidzo kunogona kutanga kuitika Muhuduku, kukanganisa uye chirwere chemoyo zvinouya neatasia uye kurasikirwa kworatidzwa.
Nemhaka yokuti yese ye spinocerebellar ataxias inowanzoshamisika, handisi kuzokurukura navo chero zvakadzama. Kazhinji yenguva, zviratidzo zvakaoma kusiyanisa kubva kune dzimwe SCA dzatotanga kuvhara, asi kuchinja kwemajini kwakasiyana.
Semuenzaniso, SCA8 inotarisa zvikuru seimwe SCA asi haina kujairika mune izvozvo pane kuti zvinhu zviwedzere kuipa nekukurukurwa kwetrinucleotide, inongova dambudziko apo pane makumi mapfumbamwe nemazana makumi mavirizve anodzokorora. Zvimwe kana zvishoma hazviiti sekuti zvinokonzera dambudziko. SCA10 inonzi pentanucleotide inodzokorora panzvimbo yekuti trinucleotide idzoke zvakare. Zvimwe zvezvinetso izvi, zvakadai seS SC25, zvinongorondedzerwa mumhuri imwechete.
Zvimwe Spinocerebellar Ataxias
Kunyange zvazvo spinocerebellar ataxia isingawanzozivikanwi, zvinokosha kuti vanachiremba nevarwere vafunge nezvekucherechedza uku kana pane imwe mhuri yemhuri yekushungurudza. Kuongororwa kweCA kunogona kuva nemigumisiro inokosha kwete chete kumunhu anenge atambura, asi nemhuri yake yose zvakare.
Sources
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