{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T15:52:59Z","timestamp":1774972379180,"version":"3.50.1"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2006,4,14]],"date-time":"2006-04-14T00:00:00Z","timestamp":1144972800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2006,5]]},"DOI":"10.1007\/s10038-006-0385-6","type":"journal-article","created":{"date-parts":[[2006,4,13]],"date-time":"2006-04-13T11:18:51Z","timestamp":1144927131000},"page":"461-466","source":"Crossref","is-referenced-by-count":25,"title":["A \u221216C&gt;T substitution in the 5\u2032 UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano"],"prefix":"10.1038","volume":"51","author":[{"given":"Takako","family":"Ohata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiro","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruya","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruka","family":"Hamanoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusaku","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomomi","family":"Okano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinya","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehiro","family":"Mizusawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ko-ichiro","family":"Yoshiura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-ichi","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,4,14]]},"reference":[{"key":"385_CR1","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1038\/ng0894-513","volume":"7","author":"S Banfi","year":"1994","unstructured":"Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7:513\u2013520","journal-title":"Nat Genet"},{"key":"385_CR2","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1086\/373883","volume":"72","author":"DH Chen","year":"2003","unstructured":"Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839\u2013849","journal-title":"Am J Hum Genet"},{"key":"385_CR3","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/ng0997-65","volume":"17","author":"G David","year":"1997","unstructured":"David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65\u201370","journal-title":"Nat Genet"},{"key":"385_CR4","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1093\/brain\/124.10.1939","volume":"124","author":"H Fujigasaki","year":"2001","unstructured":"Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A (2001) CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124:1939\u20131947","journal-title":"Brain"},{"key":"385_CR5","first-page":"1","volume":"61","author":"AE Harding","year":"1993","unstructured":"Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1\u201314","journal-title":"Adv Neurol"},{"key":"385_CR6","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1007\/s10048-004-0194-z","volume":"5","author":"R Hirano","year":"2004","unstructured":"Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K (2004) Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Neurogenetics 5:215\u2013221","journal-title":"Neurogenetics"},{"key":"385_CR7","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1038\/70493","volume":"23","author":"SE Holmes","year":"1999","unstructured":"Holmes SE, O\u2019Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5\u2032 region of PPP2R2B is associated with SCA12. Nat Genet 23:391\u2013392","journal-title":"Nat Genet"},{"key":"385_CR8","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1196-285","volume":"14","author":"G Imbert","year":"1996","unstructured":"Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats. Nat Genet 14:285\u2013291","journal-title":"Nat Genet"},{"key":"385_CR9","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1086\/432518","volume":"77","author":"K Ishikawa","year":"2005","unstructured":"Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T et al (2005) An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5\u2032 untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 77:280\u2013296","journal-title":"Am J Hum Genet"},{"key":"385_CR10","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1194-221","volume":"8","author":"Y Kawaguchi","year":"1994","unstructured":"Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221\u2013228","journal-title":"Nat Genet"},{"key":"385_CR11","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1093\/hmg\/8.11.2047","volume":"8","author":"R Koide","year":"1999","unstructured":"Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8:2047\u20132053","journal-title":"Hum Mol Genet"},{"key":"385_CR12","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/7710","volume":"21","author":"MD Koob","year":"1999","unstructured":"Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379\u2013384","journal-title":"Nat Genet"},{"key":"385_CR13","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s10038-003-0045-z","volume":"48","author":"M Li","year":"2003","unstructured":"Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H (2003) Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. J Hum Genet 48:111\u2013118","journal-title":"J Hum Genet"},{"key":"385_CR14","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1586\/14737159.3.6.715","volume":"3","author":"RL Margolis","year":"2003","unstructured":"Margolis RL (2003) Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future. Expert Rev Mol Diagn 3:715\u2013732","journal-title":"Expert Rev Mol Diagn"},{"key":"385_CR15","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1002\/ajmg.10514","volume":"114","author":"H Maruyama","year":"2002","unstructured":"Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H (2002) 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 114:578\u2013583","journal-title":"Am J Med Genet"},{"key":"385_CR16","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/79911","volume":"26","author":"T Matsuura","year":"2000","unstructured":"Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191\u2013194","journal-title":"Nat Genet"},{"key":"385_CR17","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/ng1094-177","volume":"8","author":"S Nagafuchi","year":"1994","unstructured":"Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (1994) Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 8:177\u2013182","journal-title":"Nat Genet"},{"key":"385_CR18","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1212\/WNL.54.10.1971","volume":"54","author":"U Nagaoka","year":"2000","unstructured":"Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H (2000) A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54:1971\u20131975","journal-title":"Neurology"},{"key":"385_CR19","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1093\/hmg\/10.14.1441","volume":"10","author":"K Nakamura","year":"2001","unstructured":"Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441\u20131448","journal-title":"Hum Mol Genet"},{"key":"385_CR20","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1196-269","volume":"14","author":"SM Pulst","year":"1996","unstructured":"Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269\u2013276","journal-title":"Nat Genet"},{"key":"385_CR21","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/ng1196-277","volume":"14","author":"K Sanpei","year":"1996","unstructured":"Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277\u2013284","journal-title":"Nat Genet"},{"key":"385_CR22","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1159\/000072855","volume":"100","author":"H Sasaki","year":"2003","unstructured":"Sasaki H, Yabe I, Tashiro K (2003) The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 100:198\u2013205","journal-title":"Cytogenet Genome Res"},{"key":"385_CR23","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/S1474-4422(04)00737-9","volume":"3","author":"L Schols","year":"2004","unstructured":"Schols L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291\u2013304","journal-title":"Lancet Neurol"},{"key":"385_CR24","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1007\/s10038-004-0196-6","volume":"49","author":"Y Shimizu","year":"2004","unstructured":"Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda S (2004) Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. J Hum Genet 49:610\u2013616","journal-title":"J Hum Genet"},{"key":"385_CR25","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1007\/s100380170083","volume":"46","author":"M Takashima","year":"2001","unstructured":"Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H (2001) A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. J Hum Genet 46:167\u2013171","journal-title":"J Hum Genet"},{"key":"385_CR26","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1086\/345488","volume":"72","author":"JC Swieten van","year":"2003","unstructured":"Van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72:191\u2013199","journal-title":"Am J Hum Genet"},{"key":"385_CR27","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/ng0197-62","volume":"15","author":"O Zhuchenko","year":"1997","unstructured":"Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62\u201369","journal-title":"Nat Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200669.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200669","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200669.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:35:45Z","timestamp":1638387345000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,14]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["385"],"URL":"https:\/\/doi.org\/10.1007\/s10038-006-0385-6","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,14]]}}}