{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T11:18:08Z","timestamp":1717759088228},"reference-count":15,"publisher":"Japanese Society of Internal Medicine","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2011]]},"DOI":"10.2169\/internalmedicine.50.5262","type":"journal-article","created":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T06:18:10Z","timestamp":1309501090000},"page":"1429-1432","source":"Crossref","is-referenced-by-count":4,"title":["Three Spinocerebellar Ataxia Type 2 Siblings with Ataxia, Parkinsonism, and Motor Neuronopathy"],"prefix":"10.2169","volume":"50","author":[{"given":"Noriko","family":"Nishikawa","sequence":"first","affiliation":[{"name":"Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoaki","family":"Tsujii","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nachi","family":"Tanabe","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatric Medicine, Kagoshima University Graduate School of Medicine, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nomoto","sequence":"additional","affiliation":[{"name":"Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4: 295-299, 1993.","DOI":"10.1038\/ng0793-295"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14: 269-276, 1996.","DOI":"10.1038\/ng1196-269"},{"key":"3","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1212\/01.WNL.0000035625.19871.DC","volume":"59","year":"2002","unstructured":"3. Furtado S, Farrer M, Tsuboi Y, et al. SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. Neurology 59: 1625-1627, 2002.","journal-title":"Neurology","ISSN":"http:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Lu CS, Wu Chou YH, Yen TC, Tsai CH, Chen RS, Chang HC. Dopa-responsive parkinsonism of spinocerebellar ataxia type 2. Mov Disord 17: 1046-1051, 2002.","DOI":"10.1002\/mds.10243"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14: 269-276, 1996.","DOI":"10.1038\/ng1196-269"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Orimo S, Ozawa E, Nakade S, Sugimoto T, Mizusawa H. <sup>123<\/sup>I-metaiodobenzylguanidine myocardial scintigraphy in Parkinson's disease. J Neurol Neurosurg Psychiatry 67: 189-194, 1999.","DOI":"10.1136\/jnnp.67.2.189"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Infante J, Berciano J, Volpini V, et al. Spinocerebellar ataxia type 2 with levodopa-responsive parkinsonism culminating in motor neuron disease. Mov Disord 19: 848-852, 2004.","DOI":"10.1002\/mds.20090"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Sasaki H, Fukazawa T, Wakisaka A, et al. Central phenotype and related varieties of spinocerebellar atxia type 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese. J Neurol Sci 144: 176-181, 1996.","DOI":"10.1016\/S0022-510X(96)00225-0"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia type 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuopathol 97: 306-310, 1999.","DOI":"10.1007\/s004010050989"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Kim JM, Hong S, Kim GP, et al. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol 64: 1510-1518, 2007.","DOI":"10.1001\/archneur.64.10.1510"},{"key":"11","doi-asserted-by":"publisher","unstructured":"11. Charles P, Camuzat A, Benammar N, et al. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology 69: 1970-1975, 2007.","DOI":"10.1212\/01.wnl.0000269323.21969.db"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Momeni P, Lu CS, Chou YW, et al. Taiwanese cases of SCA2 are derived from a single founder. Mov Disord 20: 1633-1636, 2005.","DOI":"10.1002\/mds.20638"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Sasaki H, Wakisaka A, Sanpei K, et al. Phenotype variation correlates with CAG repeat length in SCA2: a study of 28 Japanese patients. J Neurol Sci 159: 202-208, 1998.","DOI":"10.1016\/S0022-510X(98)00166-X"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Matsuura T, Sasaki H, Yabe I, et al. Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. J Neurol 246: 835-839, 1999.","DOI":"10.1007\/s004150050464"},{"key":"15","doi-asserted-by":"publisher","unstructured":"15. Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075, 2010.","DOI":"10.1038\/nature09320"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/50\/13\/50_13_1429\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,12]],"date-time":"2019-06-12T16:02:26Z","timestamp":1560355346000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/50\/13\/50_13_1429\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":15,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.50.5262","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}