{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T15:39:38Z","timestamp":1780760378442,"version":"3.54.1"},"reference-count":33,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T00:00:00Z","timestamp":1590451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873687"],"award-info":[{"award-number":["81873687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7202159"],"award-info":[{"award-number":["7202159"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>It was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the <jats:italic>NEU1<\/jats:italic> gene were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three out of four patients presented progressive myoclonus epilepsy. The best\u2010corrected visual acuity ranged from 20\/2000 to 20\/25. Punctate cataracts were found in all of the patients. Distinct macular cherry red spots were observed in three patients by fundoscopy, and a relatively normal fundus was revealed in one patient. Optical coherence tomography (OCT) showed increased reflectivity of the nerve fiber and ganglion cell layers, and fundus autofluorescence (FAF) revealed hyperautofluorescent areas surrounding the fovea in all of the patients. Only superficial retinal vessels can be observed using OCT angiography; the deeper capillary plexus could not be observed. Visual evoked potential revealed varying degrees of decreased amplitude and\/or prolonged latency of P100 or P2 waves. The most frequent sequence variant identified was c.544A&gt;G (p.S182G) (NM_000434.3).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A&gt;G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1316","type":"journal-article","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T14:05:08Z","timestamp":1590501908000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1"],"prefix":"10.1002","volume":"8","author":[{"given":"Xiaoxu","family":"Han","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"},{"name":"Key Laboratory of Ocular Fundus Diseases Chinese Academy of Medical Sciences &amp; Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"},{"name":"Key Laboratory of Ocular Fundus Diseases Chinese Academy of Medical Sciences &amp; Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Eye and ENT Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"},{"name":"Key Laboratory of Ocular Fundus Diseases Chinese Academy of Medical Sciences &amp; Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-0926","authenticated-orcid":false,"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China"},{"name":"Key Laboratory of Ocular Fundus Diseases Chinese Academy of Medical Sciences &amp; Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010019\u20101005\u20102"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000005209"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010013\u20101538\u20103"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2715"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.06.002"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000000482"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01625.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010016\u20102286\u20109"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.17712\/nsj.2018.1.20170328"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2018.02.005"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038\u2010002\u20108652\u20107"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2016.02.015"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics8020029"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2009.02622.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.04.011"},{"issue":"1","key":"e_1_2_11_17_1","first-page":"1","article-title":"Sialidosis: A review of human neuraminidase deficiency","volume":"31","author":"Lowden J. 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