{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:54:52Z","timestamp":1782258892288,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,10,31]],"date-time":"2024-10-31T00:00:00Z","timestamp":1730332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82025012"],"award-info":[{"award-number":["82025012"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U1905210"],"award-info":[{"award-number":["U1905210"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703900"],"award-info":[{"award-number":["2022YFC2703900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703904"],"award-info":[{"award-number":["2022YFC2703904"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2021J01231"],"award-info":[{"award-number":["2021J01231"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Expand genetic screening for atypical Type I sialidosis (ST\u20101) could address its underdiagnosed in both progressive myoclonic ataxia (PMA) and ataxia patients. To evaluate the potential founder effect of mutation in the population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We enrolled 231 patients with PMA or ataxia from the First Affiliated Hospital of Fujian Medical University. Through Whole Exome Sequencing and Sanger sequencing, we identified the causative gene in patients. Haplotype analysis was employed to explore a potential founder effect of the <jats:italic>NEU1<\/jats:italic> c.544A&gt;G mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 31 patients from 23 unrelated families were genetically diagnosed with ST\u20101. A significant 80.6% of these patients were homozygous for the c.544A&gt;G mutation. We discovered six different <jats:italic>NEU1<\/jats:italic> variants, including two novel mutations: c.951_968del and c.517T&gt;G. The mean age of onset was 18.0\u2009\u00b1\u20097.1\u2009years. The clinical spectrum of ST\u20101 featured ataxia and myoclonus as the most common initial symptoms. Over 40% suffered from controlled generalized tonic\u2013clonic seizures. Mobility and independence varied greatly across the cohort. Cherry\u2010red spots were rare, occurring in just 9.5% (2\/21) of patients. Brain MRIs were typically unremarkable, except for two patients with unusual findings. EEGs showed diffuse paroxysmal activity in 17 patients. The c.544A&gt;G mutation in <jats:italic>NEU1<\/jats:italic> is a founder variant in Fujian, with a unique haplotype prevalent in East Asians.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>ST\u20101 should be suspected in patients with PMA or ataxia in Southeast China, even without macular cherry\u2010red spots and seizures, and the premier test could be a variant screening of the founder variant <jats:italic>NEU1<\/jats:italic> c.544A&gt;G.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52212","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T05:19:07Z","timestamp":1730438347000},"page":"2998-3009","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with <scp><i>NEU1<\/i><\/scp> mutation"],"prefix":"10.1002","volume":"11","author":[{"given":"Jingjing","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Lu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University  Fuzhou 350005 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u2010Li","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical 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