Spinocerebellar Ataxia 1

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ATXN1, ATXN2, CACNA1A, ATXN1L, GRM1, RBM17, ATXN7, SPTBN2, CIC, PRKCG, TRPC3, CACNA1G, RUBCN, STUB1, NOP56, AFG3L2, WWOX, TDP2, MME, ANO10, CWF19L1, SNX14, SCYL1, ELOVL5, UBA5, TTBK2, VWA3B, SYT14, TGM6, PPP2R2B, CCDC88C, GFI1, FOXC1, GRID2, LY6E, ATXN3, CAT, ANP32A, AR, PDYN, S100B, GLO1, VEGFA, PQBP1, FXN, ATN1, HLA-A, DCTN4, PMPCA, MTOR, NUP62, NLK, ESRRB, FRAXA, SYNE1, ETV6, EPHA3, PAG1, C21orf62, PCBP4, FRAXE, EIF4E, EDN1, DNMT1, PCP2, CSF1R, CREBBP, TCTE1, CASP3, BDNF, MIR144, KHDRBS1, HSF1, KAT5, ATOX1, IVL, HMGB1, PAK1, PML, HLA-DPB1, PTPA, OPN1LW, RPA1, HTT, GTF2H1, SLC1A3, SNRNP70, TGM2, FUS, TNF, TTR, TXNRD1, UBE2E1, UBE3A, COIL, HSD17B6, HDAC3, SQSTM1, HSP90AA1, PUM1, GAPDH, RPS6KA5

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

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Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.