{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:18:18Z","timestamp":1786976298424,"version":"build-2736575974"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"the Application Research of Capital Clinical Characteristics","award":["Z181100001718082"],"award-info":[{"award-number":["Z181100001718082"]}]},{"name":"the Beijing Dongcheng District Outstanding Talent Funding Project","award":["2019DCT-M-18"],"award-info":[{"award-number":["2019DCT-M-18"]}]},{"name":"the National Key R&D Program of China","award":["2017YFC1307500"],"award-info":[{"award-number":["2017YFC1307500"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Type I sialidosis (ST\u20101) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST\u20101 patients in mainland China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reported in detail the cases of five Chinese ST\u20101 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 77 genetically confirmed ST\u20101 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0\u00a0\u00b1\u00a06.7\u00a0years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8\u00a0\u00b1\u00a02.7\u00a0years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%\u2013100%). Cherry\u2010red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%\u201390.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A\u00a0&gt;\u00a0G mutation (75% and 100%, respectively) than the patients from other regions (only 0%\u201310.0%). Approximately 50% of Chinese mainland patients carried the c.239C\u00a0&gt;\u00a0T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal,\n                      <jats:sup>18<\/jats:sup>\n                      F\u2010FDG\u2010PET analysis could reveal cerebellar and occipital lobe hypometabolism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>ST\u20101 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.51058","type":"journal-article","created":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T23:42:55Z","timestamp":1590795775000},"page":"911-923","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical and genetic characteristics of type I sialidosis patients in mainland China"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9927-847X","authenticated-orcid":false,"given":"Rui\u2010Juan","family":"Lv","sequence":"first","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases 119 South Fourth Ring West Road, Fengtai District Beijing 100070 PR. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0451-2850","authenticated-orcid":false,"given":"Tao\u2010Ran","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases 119 South Fourth Ring West Road, Fengtai District Beijing 100070 PR. China"},{"name":"Department of Neurology Xuanwu Hospital of Capital Medical University 45 Chang Chun Road, Xicheng District Beijing 100053 PR. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5232-0431","authenticated-orcid":false,"given":"Yu\u2010Di","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases 119 South Fourth Ring West Road, Fengtai District Beijing 100070 PR. China"},{"name":"Department of Neurology the Second Hospital of Hebei Medical University, Hebei Medical University 215 Heping West Road, Xinhua District Hebei 050000 Shijiazhuang PR. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5798-7115","authenticated-orcid":false,"given":"Xiao\u2010Qiu","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases 119 South Fourth Ring West Road, Fengtai District Beijing 100070 PR. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6244-6337","authenticated-orcid":false,"given":"Qun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Tiantan Hospital, Capital Medical University; China National Clinical Research Center for Neurological Diseases 119 South Fourth Ring West Road, Fengtai District Beijing 100070 PR. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2807-7152","authenticated-orcid":false,"given":"Li\u2010Ri","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College 1 Shuaifuyuan, Dongcheng District Beijing 100730 PR. 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Master Dissertation of Nanjing Medical University 2018."},{"key":"e_1_2_9_34_1","first-page":"458","article-title":"Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy","volume":"57","author":"Zhang J","year":"2019","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-016-0201-9"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfma.2019.07.017"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-019-1005-2"},{"key":"e_1_2_9_38_1","first-page":"40","article-title":"Sialidosis (neuraminidase deficiency) types I and II: neuro\u2010ophthalmic manifestations","volume":"7","author":"Till JS","year":"1987","journal-title":"J Clin Neuroophthalmol"},{"key":"e_1_2_9_39_1","first-page":"982","article-title":"Neuroradiological findings on cerebral blood flow and metabolism of a case of adult onset sialidosis","volume":"37","author":"Nishiyama Y","year":"1997","journal-title":"Rinsho Shinkeigaku (Clin Neurol)"},{"key":"e_1_2_9_40_1","first-page":"541","article-title":"A case of middle\u2010aged onset sialidosis type I","volume":"44","author":"Sakazume Y","year":"2004","journal-title":"Rinsho Shinkeigaku (Clin Neurol)"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.4103\/tjo.tjo_53_17"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.52.8901"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2007.31"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1177\/2326409814543468"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-002-8652-7"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380070034"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Facn3.51058","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51058","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.51058","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T23:06:39Z","timestamp":1693955199000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,29]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1002\/acn3.51058"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51058","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,29]]},"assertion":[{"value":"2020-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}