{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T21:39:16Z","timestamp":1790285956082,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T00:00:00Z","timestamp":1689033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GM1 gangliosidosis is a rare lysosomal storage disorder associated with \u03b2\u2010galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity. In 2019, we performed a retrospective multicentric study including all patients diagnosed with GM1 gangliosidosis in France since 1998. We had access to data for 61 of the 88 patients diagnosed between 1998 and 2019. There were 41 patients with type 1 (symptom onset \u22646\u2009months), 11 with type 2a (symptom onset from 7\u2009months to 2\u2009years), 5 with type 2b (symptom onset from 2 to 3\u2009years), and 4 with type 3 (symptom onset &gt;3\u2009years). The estimated incidence in France was 1\/210000. In patients with type 1, the first symptoms were hypotonia (26\/41, 63%), dyspnea (7\/41, 17%), and nystagmus (6\/41, 15%), whereas in patients with type 2a, these were psychomotor regression (9\/11, 82%) and seizures (3\/11, 27%). In types 2b and 3, the initial symptoms were mild, such as speech difficulties, school difficulties, and progressive psychomotor regression. Hypotonia was observed in all patients, except type 3. The mean overall survival was 23\u2009months (95% confidence interval [CI]: 7, 39) for type 1 and 9.1\u2009years (95% CI: 4.5, 13.5) for type 2a. To the best of our knowledge, this is one of the largest historical cohorts reported, which provides important information on the evolution of all types of GM1 gangliosidosis. These data could be used as a historical cohort in studies assessing potential therapies for this rare genetic disease.<\/jats:p>","DOI":"10.1002\/jimd.12646","type":"journal-article","created":{"date-parts":[[2023,6,29]],"date-time":"2023-06-29T09:23:38Z","timestamp":1688030618000},"page":"972-981","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Natural history of <scp>GM1<\/scp> gangliosidosis\u2014Retrospective cohort study of 61 French patients from 1998 to 2019"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5153-0832","authenticated-orcid":false,"given":"Domitille","family":"Laur","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology H\u00f4pital Robert\u2010Debr\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Pichard","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism, Necker Enfants\u2010Malades Hospital, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Metabolic Biochemistry Department Rouen University Hospital  Rouen France"},{"name":"Normandie Univ UNIROUEN, CHU Rouen, INSERM U1245  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[{"name":"Biochemistry, Metabolomic and Proteomic Department INSERM UMRS 1151, Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Centre de Biologie et de Pathologie Est, CHU de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique, CHU de Toulouse, and INSERM UMR1037, CRCT (Cancer Research Center of Toulouse) Universit\u00e9 Paul Sabatier  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie, CIC CHU de Montpellier, INM, Univ Montpellier, INSERM U1298  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Reference Center of Neuromuscular Disorders Nord\/Est\/\u00cele\u2010de\u2010France, Pediatric Neurology Department Necker\u2010Enfants\u2010Malades Hospital, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"H\u00e9ron","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Lysosomales, Service de Neurologie P\u00e9diatrique, H\u00f4pital Armand Trousseau\u2010La Roche Guyon, APHP F\u00e9d\u00e9ration Hospitalo\u2010Universitaire I2\u2010D2 AP\u2010HP.Sorbonne\u2010Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Cit\u00e9 INSERM NeuroDiderot  Paris France"},{"name":"Institut Universitaire de France (IUF)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.012"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.009"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112201"},{"issue":"1","key":"e_1_2_10_5_1","first-page":"663","article-title":"The GM1 and GM2 gangliosidoses: natural history and progress toward therapy","volume":"13","author":"Regier DS","year":"2016","journal-title":"Pediatr Endocrinol 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