This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.
Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010; 9:885–94.DurrAAutosomal dominant cerebellar ataxias: polyglutamine expansions and beyond20109885–9410.1016/S1474-4422(10)70183-6Search in Google Scholar
Klockgether T, Paulson H. Milestones in ataxia. Mov Disord. 2011; 26:1134–41.KlockgetherTPaulsonHMilestones in ataxia2011261134–4110.1002/mds.23559310534921626557Search in Google Scholar
Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol. 2009; 29:227–37.PaulsonHLThe spinocerebellar ataxias200929227–3710.1097/WNO0b013e3181b416de273912219726947Search in Google Scholar
Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, et al. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet. 2014; 51:590–5.TsoiHYuACChenZSNgNKChanAYYuenLYet alA novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia201451590–510.1136/jmedgenet-2014-102333414542525062847Search in Google Scholar
Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011; 89:121–30.KobayashiHAbeKMatsuuraTIkedaYHitomiTAkechiYet alExpansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement201189121–3010.1016/j.ajhg.2011.05.015313581521683323Search in Google Scholar
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. 2013; 70:764–71.Serrano-MunueraCCorral-JuanMStevaninGSanNicolás HRoigCCorralJet alNew subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32201370764–7110.1001/jamaneurol.2013.231123700170Search in Google Scholar
Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain. 2010; 133:3510–8.WangJLYangXXiaKHuZMWengLJinXet alTGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing20101333510–810.1093/brain/awq32321106500Search in Google Scholar
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013; 8:177. doi: 10.1186/1750-1172-8-177AshizawaTFigueroaKPPerlmanSLGomezCMWilmotGRSchmahmannJDet alClinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study2013817710.1186/1750-1172-8-177384357824225362Open DOISearch in Google Scholar
Paulson H. Machado–Joseph disease/spinocerebellar ataxia type 3. In: Subramony SH, Dürr A, editors. Handbook of clinical neurology. Vol. 103 (3rd series). Ataxic disorders. Amsterdam: Elsevier; 2012, p. 437–49.PaulsonHMachado–Joseph disease/spinocerebellar ataxia type 3SubramonySHDürrAVol. 103(3rd series). Ataxic disordersAmsterdamElsevier2012437–4910.1016/B978-0-444-51892-7.00027-9356876821827905Search in Google Scholar
Pulst SM. Spinocerebellar ataxia type 2. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews [Internet]. Seattle: University of Washington; 1998 [updated 2015 Nov 12; cited 2017 Feb 28]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1275/PulstSMSpinocerebellar ataxia type 2PagonRAAdamMPArdingerHHWallaceSEAmemiyaABeanLJHet al., editorsSeattleUniversity of Washington1998[updated 2015 Nov 12; cited 2017 Feb 28]. Available athttps://www.ncbi.nlm.nih.gov/books/NBK1275/Search in Google Scholar
Solodkin A, Gomez CM. Spinocerebellar ataxia type 6. In: Subramony SH, Dürr A, editors. Handbook of clinical neurology. Vol. 103 (3rd series). Ataxic disorders. Amsterdam: Elsevier; 2012, p. 461–73.SolodkinAGomezCMSpinocerebellar ataxia type 6SubramonySHDürrAVol. 103(3rd series). Ataxic disordersAmsterdamElsevier2012461–7310.1016/B978-0-444-51892-7.00029-221827907Search in Google Scholar
van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurol. 2002; 58:702–8.van de WarrenburgBPSinkeRJVerschuuren-BemelmansCCSchefferHBruntERIppelPFet alSpinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis200258702–810.1212/WNL.58.5.70211889231Search in Google Scholar
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch Neurol. 2007; 64:1502–8.MartinsSCalafellFGasparCWongVCSilveiraINicholsonGAet alAsian origin for the worldwide-spread mutational event in Machado-Joseph disease2007641502–810.1001/archneur.64.10.150217923634Search in Google Scholar
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 1998; 63:1060–6.TakanoHCancelGIkeuchiTLorenzettiDMawadRStevaninGet alClose associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations1998631060–610.1086/30206713774999758625Search in Google Scholar
Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol. 2000; 57:540–4.TangBLiuCShenLDaiHPanQJingLet alFrequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds200057540–410.1001/archneur.57.4.54010768629Search in Google Scholar
Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, Bhidayasiri R, Jitkritsadakul O, Pongpakdee S, et al. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC Neurol. 2015; 15:166. doi: 10.1186/s12883-015-0425-yChoubtumLWitoonpanichPHanchaiphiboolkulSBhidayasiriRJitkritsadakulOPongpakdeeSet alAnalysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study20151516610.1186/s12883-015-0425-y457106526374734Open DOISearch in Google Scholar
Sura T, Eu-Ahsunthornwattana J, Youngcharoen S, Busabaratana M, Dejsuphong D, Trachoo O, et al. Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history? J Hum Genet. 2009; 54:284–8.SuraTEu-AhsunthornwattanaJYoungcharoenSBusabaratanaMDejsuphongDTrachooOet al200954284–810.1038/jhg.2009.2719329990Search in Google Scholar
Boonkongchuen P, Pongpakdee S, Jindahra P, Papsing C, Peerapatmongkol P, Wetchaphanphesat S, et al. Clinical analysis of adult-onset spinocerebellar ataxias in Thailand. BMC Neurol. 2014; 14:75. doi: 10.1186/1471-2377-14-75BoonkongchuenPPongpakdeeSJindahraPPapsingCPeerapatmongkolPWetchaphanphesatSet alClinical analysis of adult-onset spinocerebellar ataxias in Thailand2014147510.1186/1471-2377-14-75398557924708620Open DOISearch in Google Scholar
Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, et al. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain. 1998; 121:459–67.GiuntiPSabbadiniGSweeneyMGDavisMBVenezianoLMantuanoEet alThe role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates1998121459–6710.1093/brain/121.3.4599549522Search in Google Scholar
Giunti P, Sweeney MG, Harding AE. Detection of the Machado– Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain. 1995; 118:1077–85.GiuntiPSweeneyMGHardingAEDetection of the Machado– Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth19951181077–8510.1093/brain/118.5.10777496771Search in Google Scholar
Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, et al. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain. 1994; 117:645–9.GiuntiPSweeneyMGSpadaroMJodiceCNovellettoAMalaspinaPet alThe trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias1994117645–910.1093/brain/117.4.6457922453Search in Google Scholar
Warner TT, Williams LD, Walker RW, Flinter F, Robb SA, Bundey SE, et al. A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol. 1995; 37:452–9.WarnerTTWilliamsLDWalkerRWFlinterFRobbSABundeySEet alA clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families199537452–910.1002/ana.4103704077717681Search in Google Scholar
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage-dependent calcium channel. Nat Genet. 1997; 15:62–9.ZhuchenkoOBaileyJBonnenPAshizawaTStocktonDWAmosCet alAutosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage-dependent calcium channel19971562–910.1038/ng0197-628988170Search in Google Scholar
Gan SR, Shi SS, Wu JJ, Wang N, Zhao GX, Weng ST, et al. High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia. BMC Med Genet. 2010; 11:47. doi: 10.1186/1471-2350-11-47GanSRShiSSWuJJWangNZhaoGXWengSTet alHigh frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia2010114710.1186/1471-2350-11-47286166320334689Open DOISearch in Google Scholar
Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet. 2002; 114:578–83.MaruyamaHIzumiYMorinoHOdaMTojiHNakamuraSet alDifference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients2002114578–8310.1002/ajmg.1051412116198Search in Google Scholar
Laffita-Mesa JM, Bauer PO, Kouri V, Pena Serrano L, Roskams J, Almaguer Gotay D, et al. Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications. Hum Genet. 2012; 131:625–38.Laffita-MesaJMBauerPOKouriVPenaSerrano LRoskamsJAlmaguerGotay Det alEpigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications2012131625–3810.1007/s00439-011-1101-y22037902Search in Google Scholar
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996; 39:490–9.DürrAStevaninGCancelGDuyckaertsCAbbasNDidierjeanOet alSpinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features199639490–910.1002/ana.4103904118619527Search in Google Scholar
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol. 2001; 58:899–904.JardimLBPereiraMLSilveiraIFerroASequeirosJGiuglianiRNeurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n200158899–90410.1001/archneur.58.6.89911405804Search in Google Scholar