{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:26:51Z","timestamp":1790774811406,"version":"4.1.0"},"reference-count":153,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T00:00:00Z","timestamp":1682985600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008358","name":"Dutch brain foundation","doi-asserted-by":"publisher","award":["DR-2018-00253"],"award-info":[{"award-number":["DR-2018-00253"]}],"id":[{"id":"10.13039\/501100008358","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008358","name":"Dutch brain foundation","doi-asserted-by":"publisher","award":["10250022110002"],"award-info":[{"award-number":["10250022110002"]}],"id":[{"id":"10.13039\/501100008358","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008358","name":"Dutch brain foundation","doi-asserted-by":"publisher","award":["446002002"],"award-info":[{"award-number":["446002002"]}],"id":[{"id":"10.13039\/501100008358","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ZonMW PSIDER project","award":["DR-2018-00253"],"award-info":[{"award-number":["DR-2018-00253"]}]},{"name":"ZonMW PSIDER project","award":["10250022110002"],"award-info":[{"award-number":["10250022110002"]}]},{"name":"ZonMW PSIDER project","award":["446002002"],"award-info":[{"award-number":["446002002"]}]},{"name":"ZonMw Pto2","award":["DR-2018-00253"],"award-info":[{"award-number":["DR-2018-00253"]}]},{"name":"ZonMw Pto2","award":["10250022110002"],"award-info":[{"award-number":["10250022110002"]}]},{"name":"ZonMw Pto2","award":["446002002"],"award-info":[{"award-number":["446002002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease is caused by an extended CAG repeat in exon 8 of the ATXN1 gene and is characterized mostly by a profound loss of cerebellar Purkinje cells, leading to disturbances in coordination, balance, and gait. At present, no curative treatment is available for SCA1. However, increasing knowledge on the cellular and molecular mechanisms of SCA1 has led the way towards several therapeutic strategies that can potentially slow disease progression. SCA1 therapeutics can be classified as genetic, pharmacological, and cell replacement therapies. These different therapeutic strategies target either the (mutant) ATXN1 RNA or the ataxin-1 protein, pathways that play an important role in downstream SCA1 disease mechanisms or which help restore cells that are lost due to SCA1 pathology. In this review, we will provide a summary of the different therapeutic strategies that are currently being investigated for SCA1.<\/jats:p>","DOI":"10.3390\/biom13050788","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T01:36:38Z","timestamp":1683077798000},"page":"788","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Therapeutic Strategies for Spinocerebellar Ataxia Type 1"],"prefix":"10.3390","volume":"13","author":[{"given":"Laurie M.C.","family":"Kerkhof","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"},{"name":"Dutch Center for RNA Therapeutics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.C. van de","family":"Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willeke M.C. van","family":"Roon-Mom","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"},{"name":"Dutch Center for RNA Therapeutics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9722-8110","authenticated-orcid":false,"given":"Ronald A.M.","family":"Buijsen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/1043-4682(95)90012-8","article-title":"Spinocerebellar ataxia type 1","volume":"6","author":"Zoghbi","year":"1995","journal-title":"Semin Cell Biol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/ng0894-513","article-title":"Identification and characterization of the gene causing type 1 spinocerebellar ataxia","volume":"7","author":"Banfi","year":"1994","journal-title":"Nat. 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