{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T13:00:23Z","timestamp":1788267623065,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Late\u2010onset GM2 gangliosidosis (LOGG) subtypes late\u2010onset Tay\u2010Sachs (LOTS) and Sandhoff disease (LOSD) are ultra\u2010rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We examined MEDLINE\/non\u2010MEDLINE databases up to May 2022. Articles reporting brain imaging findings in genetically\/enzymatically confirmed LOGG, symptom onset at age\u2009\u2265\u200910\u2009years (or evaluated at least once \u226518\u2009years) were included, yielding 170 LOGG patients (LOTS\u2009=\u2009127, LOSD\u2009=\u200943) across 68 papers. We compared LOTS versus LOSD and performed regression analyses. Results were corrected for multiple comparisons.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Age of onset was lower in LOTS versus LOSD (17.9\u2009\u00b1\u20098.2 vs. 23.9\u2009\u00b1\u200914.4\u2009years, <jats:italic>p<\/jats:italic>\u2009=\u20090.017), although disease duration was similar (<jats:italic>p<\/jats:italic>\u2009=\u20090.34). LOTS more commonly had psychosis\/bipolar symptoms (35.0% vs. 9.30%, <jats:italic>p<\/jats:italic>\u2009=\u20090.011) but less frequent swallowing problems (4.10% vs. 18.60%, <jats:italic>p<\/jats:italic>\u2009=\u20090.041). Cerebellar atrophy was more common in LOTS (89.0%) versus LOSD (60.5%), <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001, with more severe atrophy in LOTS (<jats:italic>p<\/jats:italic>\u2009=\u20090.0005). Brainstem atrophy was documented only in LOTS (14.2%). Independent predictors of LOTS versus LOSD (odds ratio [95% confidence interval]) included the presence of psychosis\/bipolar symptoms (4.95 [1.59\u201319.52], <jats:italic>p<\/jats:italic>\u2009=\u20090.011), no swallowing symptoms (0.16 [0.036\u20130.64], <jats:italic>p<\/jats:italic>\u2009=\u20090.011), and cerebellar atrophy (5.81 [2.10\u201317.08], <jats:italic>p<\/jats:italic>\u2009=\u20090.0009). Lower age of onset (0.96 [0.93\u20131.00], <jats:italic>p<\/jats:italic>\u2009=\u20090.075) and tremor (2.50 [0.94\u20137.43], <jats:italic>p<\/jats:italic>\u2009=\u20090.078) were marginally statistically significant but felt relevant to include in the model.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>These data suggest significant differences in symptomatology, disease course, and imaging findings between LOTS and LOSD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51947","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T22:54:24Z","timestamp":1701125664000},"page":"207-224","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and imaging predictors of late\u2010onset GM2 gangliosidosis: A scoping review"],"prefix":"10.1002","volume":"11","author":[{"given":"Neha P.","family":"Godbole","sequence":"first","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Haxton","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0577-5927","authenticated-orcid":false,"given":"Olivia E.","family":"Rowe","sequence":"additional","affiliation":[{"name":"Athinoula A. Martinos Center for Biomedical Imaging, Division of Neuroradiology, Department of Radiology Massachusetts General Hospital and Harvard Medical School  Charlestown Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph J.","family":"Locascio","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Harvard Catalyst Biostatistical Consulting Group, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy D.","family":"Schmahmann","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6836-1089","authenticated-orcid":false,"given":"Florian S.","family":"Eichler","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva\u2010Maria","family":"Ratai","sequence":"additional","affiliation":[{"name":"Athinoula A. 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