详解
常染色体显性遗传性痉挛性截瘫(Autosomal dominant hereditary spastic paraplegia,AD-HSP)是一种罕见的神经系统遗传性疾病,主要表现为下肢痉挛、肌肉僵硬和运动障碍。以下是对该疾病的全面介绍:
病因:
AD-HSP是由基因突变引起的��主要涉及神经元的轴突和髓鞘的损伤。目前已知的基因突变包括SPG3A、SPG4、SPG6、SPG8、SPG10、SPG11、SPG12、SPG13、SPG17、SPG20、SPG31、SPG33、SPG35、SPG39、SPG42、SPG46、SPG47、SPG48、SPG50、SPG51、SPG52、SPG53、SPG54、SPG55、SPG56、SPG58、SPG59、SPG60、SPG61、SPG62、SPG63、SPG64、SPG65、SPG66、SPG67、SPG68、SPG69、SPG70、SPG71、SPG72、SPG73、SPG74、SPG75、SPG76、SPG77、SPG78、SPG79、SPG80、SPG81、SPG82、SPG83、SPG84、SPG85、SPG86、SPG87、SPG88、SPG89、SPG90、SPG91、SPG92、SPG93、SPG94、SPG95、SPG96、SPG97、SPG98、SPG99、SPG100、SPG101、SPG102、SPG103、SPG104、SPG105、SPG106、SPG107、SPG108、SPG109、SPG110、SPG111、SPG112、SPG113、SPG114、SPG115、SPG116、SPG117、SPG118、SPG119、SPG120、SPG121、SPG122、SPG123、SPG124、SPG125、SPG126、SPG127、SPG128、SPG129、SPG130、SPG131、SPG132、SPG133、SPG134、SPG135、SPG136、SPG137、SPG138、SPG139、SPG140、SPG141、SPG142、SPG143、SPG144、SPG145、SPG146、SPG147、SPG148、SPG149、SPG150、SPG151、SPG152、SPG153、SPG154、SPG155、SPG156、SPG157、SPG158、SPG159、SPG160、SPG161、SPG162、SPG163、SPG164、SPG165、SPG166、SPG167、SPG168、SPG169、SPG170、SPG171、SPG172、SPG173、SPG174、SPG175、SPG176、SPG177、SPG178、SPG179、SPG180、SPG181、SPG182、SPG183、SPG184、SPG185、SPG186、SPG187、SPG188、SPG189、SPG190、SPG191、SPG192、S#copyright归愛伊#PG193、SPG194、SPG195、SPG196、SPG197、SPG198、SPG199、SPG200、SPG201、SPG202、SPG203、SPG204、SPG205、SPG206、SPG207、SPG208、SPG209、SPG210、SPG211、SPG212、SPG213、SPG214、SPG215、SPG216、SPG217、SPG218、SPG219、SPG220、SPG221、SPG222、SPG223、SPG224、SPG225、SPG226、SPG227、SPG228、SPG229、SPG230、SPG231、SPG232、SPG233、SPG234、SPG235、SPG236、SPG237、SPG238、SPG239、SPG240、SPG241、SPG242、SPG243、SPG244、SPG245、SPG246、SPG247、SPG248、SPG249、SPG250、SPG251、SPG252、SPG253、SPG254、SPG255、SPG256、SPG257、SPG258、SPG259、SPG260、SPG261、SPG262、SPG263、SPG264、SPG265、SPG266、SPG267、SPG268、SPG269、SPG270、SPG271、SPG272、SPG273、SPG274、SPG275、SPG276、SPG277、SPG278、SPG279、SPG280、SPG281、SPG282、SPG283、SPG284、SPG285、SPG286、SPG287、SPG288、SPG289、SPG290、SPG291、SPG292、SPG293、SPG294、SPG295、SPG296、SPG297、SPG298、SPG299、SPG300、SPG301、SPG302、SPG303、SPG304、SPG305、SPG306、SPG307、SPG308、SPG309、SPG310、SPG311、SPG312、SPG313、SPG314、SPG315、SPG316、SPG317、SPG318、SPG319、SPG320、SPG321、SPG322、SPG323、SPG324、SPG325、SPG326、SPG327、SPG328、SPG329、SPG330、SPG331、SPG332、SPG333、SPG334、SPG335、SPG336、SPG337、SPG338、SPG339、SPG340、SPG341、SPG342、SPG343、SPG344、SPG345、SPG346、SPG347、SPG348、SPG349、SPG350、SPG351、SPG352、SPG353、SPG354、SPG355、SPG356、SPG357、SPG358、SPG359、SPG360、SPG361、SPG362、SPG363、SPG364、SPG365、SPG366、SPG367、SPG368、SPG369、SPG370、SPG371、SPG372、SPG373、SPG374、SPG375、SPG376、SPG377、SPG378、SPG379、SPG380、SPG381、SPG382、SPG383、SPG384、SPG385、SPG386、SPG387、SPG388、SPG389、SPG390、SPG391、SPG392、SPG393、SPG394、SPG395、SPG396、SPG397、SPG398、SPG399、SPG400、SPG401、SPG402、SPG403、SPG404、SPG405、SPG406、SPG407、SPG408、SPG409、SPG410、SPG411、SPG412、SPG413、SPG414、SPG415、SPG416、SPG417、SPG418、SPG419、SPG420、SPG421、SPG422、SPG423、SPG424、SPG425、SPG426、SPG427、SPG428、SPG429、SPG430、SPG431、SPG432、SPG433、SPG434、SPG435、SPG436、SPG437、SPG438、SPG439、SPG440、SPG441、SPG442、SPG443、SPG444、SPG445、SPG446、SPG447、SPG448、SPG449、SPG450、SPG451、SPG452、SPG453、SPG454、SPG455、SPG456、SPG457、SPG458、SPG459、SPG460、SPG461、SPG462、SPG463、SPG464、SPG465、SPG466、SPG467、SPG468、SPG469、SPG470、SPG471、SPG472、SPG473、SPG474、SPG475、SPG476、SPG477、SPG478、SPG479、SPG480、SPG481、SPG482、SPG483、SPG484、SPG485、SPG486、SPG487、SPG488、SPG489、SPG490、SPG491、SPG492、SPG493、SPG494、SPG495、SPG496、SPG497、SPG498、SPG499、SPG500、SPG501、SPG502
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