{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:34:29Z","timestamp":1791434069305,"version":"4.3.3"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,24]],"date-time":"2011-11-24T00:00:00Z","timestamp":1322092800000},"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":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> To report the demographic, phenotypic, and time\u2010to\u2010diagnosis characteristics of children with GM2 gangliosidosis referred to the UK study of Progressive Intellectual and Neurological Deterioration.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> Case notification is made via monthly surveillance card, administered by the British Paediatric Surveillance Unit to all UK\u2010based paediatricians; children with GM2 gangliosidosis were identified from cases satisfying inclusion in the UK study of Progressive Intellectual and Neurological Deterioration and analysed according to phenotypic and biochemical categories.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Between May 1997 and January 2010, 73 individuals with GM2 gangliosidoses were reported: 40 with Tay\u2013Sachs disease, 31 with Sandhoff disease, and two with GM2 activator protein deficiency. Together they account for 6% (73\/1164) of all diagnosed cases of progressive intellectual and neurological deterioration. The majority (62\/73) were sporadic index cases with no family history. Children of Pakistani ancestry were overrepresented in all subtypes, particularly juvenile Sandhoff disease, accounting for 10 of 11 notified cases. Infantile\u2010onset variants predominated (55\/73); the mean age at onset of symptoms was 6.2 and 4.7\u2003months for infantile\u2010onset Tay\u2013Sachs and Sandhoff disease respectively, and 26.2 and 34.7\u2003months for the corresponding juvenile\u2010onset variants. Time to diagnosis averaged 7.4\u2003months and 28.0\u2003months in infantile\u2010 and juvenile\u2010onset disease respectively.<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold> GM2 gangliosidosis is a significant cause of childhood neurodegenerative disease; timely diagnosis relies upon improved clinical recognition, which may be increasingly important as specific therapies become available. There is a potential benefit from the introduction of screening programmes for high\u2010risk ethnic groups.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04160.x","type":"journal-article","created":{"date-parts":[[2011,11,24]],"date-time":"2011-11-24T13:00:33Z","timestamp":1322139633000},"page":"176-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed"],"prefix":"10.1111","volume":"54","author":[{"given":"NICHOLAS J","family":"SMITH","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANNE MARIE","family":"WINSTONE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LESLEY","family":"STELLITANO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TIMOTHY M","family":"COX","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CHRISTOPHER M","family":"VERITY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,24]]},"reference":[{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390234"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(68)90024-6"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(72)90082-4"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1453"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0588"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000154300.84107.75"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000112174"},{"key":"e_1_2_9_9_2","volume-title":"The Online Metabolic & Molecular Bases of Inherited Disease. 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