| 1 | CACNA1A, SCA6
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| Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6.
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| Unno T, Wakamori M, Koike M, Uchiyama Y, Ishikawa K, Kubota H, Yoshida T, Sasakawa H, Peters C, Mizusawa H, Watase K.
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| Proc Natl Acad Sci U S A 109(43):17693-8. doi: 10.1073/pnas.1212786109. Epub 2012 Oct 10.
2012
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| 2 | CACNA1A, EA1, EA2, EA3, EA4, EA5, EA6, EAAT1, KCNA1, SCA6
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| Late onset hereditary episodic ataxia.
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| Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.
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| J Neurol Neurosurg Psychiatry 80(5):566-8.
2009
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| 3 | CACNA1A, SCA6
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| Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
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| Craig K, Takiyama Y, Soong BW, Jardim LB, Saraiva-Pereira ML, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery PF.
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| Eur J Hum Genet 16(7):841-7. Epub 2008 Feb 20.
2008
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| 4 | BAFME1, BAFME2, SCA6
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| Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6.
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| Bour LJ, van Rootselaar AF, Koelman JH, Tijssen MA.
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| Brain 131(Pt 9):2295-303. Epub 2008 Aug 7.
2008
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| 5 | CACNA1A, SCA6
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| Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
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| Saegusa H, Wakamori M, Matsuda Y, Wang J, Mori Y, Zong S, Tanabe T.
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| Mol Cell Neurosci 34(2):261-70. Epub 2006 Dec 22.
2007
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| 6 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
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| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
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| Helmlinger D, Tora L, Devys D.
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| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
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| 7 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 8 | SCA6
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| Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
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| Khan NL, Giunti P, Sweeney MG, Scherfler C, Brien MO, Piccini P, Wood NW, Lees AJ.
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| Mov Disord 20(9):1115-9. 2005
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| 9 | CACNA1A, SCA6
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| Molecular epidemiology of spinocerebellar ataxia type 6.
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| Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF.
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| Ann Neurol 55(5):752-5. 2004
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| 10 | SCA6, SCA8
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| SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6
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| Izumi Y, Maruyama H, Oda M, Morino H, Okada T, Ito H, Sasaki I, Tanaka H, Komure O, Udaka F, Nakamura S, Kawakami H.
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| Am J Hum Genet 72(3):704-9. 2003
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| 11 | CACNA1A, EA2, SCA6
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| Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
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| Mantuano E, Veneziano L, Jodice C, Frontali M.
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| Cytogenet Genome Res 100(1-4):147-53. 2003
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| 12 | SCA6
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| Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese.
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| Yabe I, Sasaki H, Yamashita I, Tashiro K, Takei A, Suzuki Y, Kida H, Takiyama Y, Nishizawa M, Hokezu Y, Nagamatsu K, Oda T, Ohnishi A, Inoue I, Hata A.
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| J Med Genet 38 : 328-333. 2001
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| 13 | CACNA1A, EA2, MHP1, SCA6
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| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
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| Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D.
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| Am J Hum Genet 68(3):759-64. 2001
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| 14 | CACNA1A, SCA6
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| Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder
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| Frontali M.
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| Brain Res Bull 56(3-4):227-31. Review. 2001
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| 15 | CACNA1A, SCA6
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| Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
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| Kato T, Tanaka F, Yamamoto M, Yosida E, Indo T, Watanabe H, Yoshiwara T, Doyu M, Sobue G.
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| Clin Genet 58(1):69-73. 2000
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| 16 | CACNA1A, SCA6
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| Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.
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| Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T.
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| J Biol Chem 275(15):10893-8. 2000
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| 17 | SCA6
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| Genetics of the SCA6 gene in a large family segregating an autosomal dominant pure cerebellar ataxia.
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| Garcia-Planells J, Cuesta A, Vilchez JJ, Martinez F, Prieto F, Palau F.
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| J Med Genet 36 : 148-151. 1999
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| 18 | CACNA1A, SCA6
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| Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
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| Ishikawa K, et al.
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| Hum Mol Genet 8(7):1185-1193. 1999
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| 19 | SCA6
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| Spinocerebellar ataxia type 6 in relation to CAG repeat length.
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| Kaseda Y, et al.
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| Acta Neurol Scand 99(4):209-12. 1999
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| 20 | ATXN2, SCA6
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| CAG repeat expansions in patients with sporadic cerebellar ataxia.
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| Futamura N, et al.
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| Acta Neurol Scand 98 : 55-59. 1998
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| 21 | CACNA1A, SCA6
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| A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.
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| Takiyama Y, Sakoe K, Namekawa M, Soutome M, Esumi E, Ogawa T, Ishikawa K, Mizusawa H, Nakano I, Nishizawa M.
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| J Neurol Sci 158 : 141-147. 1998
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| 22 | ATN1, ATXN1, SCA2, SCA6
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| 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.
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| Takano H, et al.
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| Am J Hum Genet 63 : 1060-1066. 1998
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| 23 | CACNA1A, SCA6
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| Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.
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| Shizuka M, et al.
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| J Neurol Sci 161 : 85-87. 1998
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| 24 | CACNA1A, SCA6
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| Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel.
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| Zhuchenko O, et al.
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| Nat Genet 15 : 62-69. 1997
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| 25 | SCA6
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| Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6).
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| Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S.
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| Hum Mol Genet 6(8):1283-7. 1997
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| 26 | SCA6
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| SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.
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| Riess O, Schols L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsova A, Macek M Sen, Klockgether T, Zuhlke C, Laccone FA.
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| Hum Mol Genet 6(8):1289-93. 1997
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| 27 | CACNA1A, SCA6
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| Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
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| Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H.
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| Am J Hum Genet 61(2):336-46. 1997
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| 28 | CACNA1A, EA2, SCA6
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| Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
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| Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.
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| Hum Mol Genet 6(11):1973-8. 1997
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| 29 | SCA6
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| Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion.
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| Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T.
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| Neurology 49(5):1238-43. 1997
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| 30 | SCA6
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| Spinocerebellar ataxia type 6 : CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
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| Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, Onishi Y, Igarashi S, Tanaka H, Nakao N, Sahashi K, Tsukagoshi H, Inoue K, Takahashi H, Tsuji S.
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| Ann Neurol 42(6):879-84. 1997
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| 31 | SCA6
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| Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.
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| Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM.
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| Neurology 49(5):1247-51. 1997
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