{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:46:09Z","timestamp":1778633169372,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006952","name":"Louisiana Board of Regents","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["NS064096"],"award-info":[{"award-number":["NS064096"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003189","name":"National Tay-Sachs and Allied Diseases Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003189","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Orthopaedic Research"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sandhoff disease (SD) is caused by decreased function of the enzyme \u03b2\u2010N\u2010acetylhexosaminidase, resulting in accumulation of GM2 ganglioside in tissues. Neural tissue is primarily affected and individuals with the infantile form of the disease generally do not survive beyond 4 years of age. Current treatments address neurometabolic deficits to improve lifespan, however, this extended lifespan allows clinical disease to become manifest in other tissues, including the musculoskeletal system. The impact of SD on bone and joint tissues has yet to be fully determined. In a feline model of infantile SD, animals were treated by intracranial injection of adeno\u2010associated virus vectors to supply the central nervous system with corrective levels of hexosaminidase, resulting in a twofold to threefold increase in lifespan. As treated animals aged, signs of musculoskeletal disease were identified. The present study characterized bone and joint lesions from affected cats using micro\u2010computed tomography and histology. All affected cats had similar lesions, whether or not they were treated. SD cats displayed a significant reduction in metaphyseal trabecular bone and markedly abnormal size and shape of epiphyses. Abnormalities increased in severity with age and appear to be due to alteration in the function of chondrocytes within epiphyseal cartilage, particularly the articular\u2010epiphyseal complex. Older cats developed secondary osteoarthritic changes. The changes identified are similar to those seen in humans with mucopolysaccharidoses. Statement of clinical significance: the lesions identified will have significant implications on the quality of life of individuals whose lifespans are extended due to treatments for the primary neurological effects of SD.<\/jats:p>","DOI":"10.1002\/jor.24803","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T17:26:48Z","timestamp":1595006808000},"page":"2580-2591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Abnormal epiphyseal development in a feline model of Sandhoff disease"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6638-253X","authenticated-orcid":false,"given":"Margaret A.","family":"McNulty","sequence":"first","affiliation":[{"name":"Department of Anatomy, Cell Biology, and Physiology Indiana University School of Medicine Indianapolis Indiana"},{"name":"Department of Comparative Biomedical Sciences Louisiana State University School of Veterinary Medicine Baton Rouge Louisiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia B.","family":"Prevatt","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Physiology, and Pharmacology Auburn University College of Veterinary Medicine Auburn Alabama"},{"name":"Scott\u2010Ritchey Research Center Auburn University College of Veterinary Medicine Auburn Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth R.","family":"Nussbaum","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences University of Minnesota College of Veterinary Medicine St Paul Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley N.","family":"Randle","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences Auburn University College of Veterinary Medicine Auburn Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aime 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