{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T19:51:36Z","timestamp":1778615496984,"version":"3.51.4"},"reference-count":144,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T00:00:00Z","timestamp":1758240000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ricerca Corrente 2024-2025","award":["RC 5\u2009\u00d7\u20091000"],"award-info":[{"award-number":["RC 5\u2009\u00d7\u20091000"]}]},{"name":"Ricerca Corrente 2024-2025","award":["GJC21131"],"award-info":[{"award-number":["GJC21131"]}]},{"DOI":"10.13039\/501100002426","name":"Telethon","doi-asserted-by":"publisher","award":["RC 5\u2009\u00d7\u20091000"],"award-info":[{"award-number":["RC 5\u2009\u00d7\u20091000"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Telethon","doi-asserted-by":"publisher","award":["GJC21131"],"award-info":[{"award-number":["GJC21131"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Hereditary spastic paraplegia (HSP) and hereditary ataxias (HA) are clinically and genetically heterogeneous neurodegenerative disorders that primarily affect motor coordination and neural integrity. Despite distinct pathological features, such as pyramidal tract degeneration in HSP and spinocerebellar pathway involvement in HA, these conditions share overlapping genetic pathways and mechanisms. The fruit fly Drosophila melanogaster has emerged as a powerful model organism for investigating the molecular basis of rare diseases, including HSP and HA. Its genetic tractability, rapid life cycle, and high degree of gene conservation with humans make it a cost-effective and ethically viable platform for disease modelling. In this review, we provide a comprehensive overview of Drosophila-based models for HSP and HA. We highlight the use of advanced genetic tools, including RNA interference, CRISPR\/Cas9, and the GAL4\/UAS system, as well as behavioral and neuroanatomical assays to model disease features. Furthermore, we discuss the application of genetic \u201cavatars\u201d and high-throughput drug screening platforms to test therapeutic candidates. Collectively, these models have deepened our understanding of the pathophysiology of HSP and HA, offering valuable insights for the development of targeted therapies and approaches to personalized medicine.<\/jats:p>","DOI":"10.3390\/cells14181466","type":"journal-article","created":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T12:33:32Z","timestamp":1758285212000},"page":"1466","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0450-2514","authenticated-orcid":false,"given":"Rachele","family":"Vivarelli","sequence":"first","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3910-6836","authenticated-orcid":false,"given":"Chiara","family":"Vantaggiato","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8236-1197","authenticated-orcid":false,"given":"Maria Teresa","family":"Bassi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0194-0702","authenticated-orcid":false,"given":"Maria","family":"Marchese","sequence":"additional","affiliation":[{"name":"Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms","volume":"261","author":"Lombardi","year":"2014","journal-title":"Exp. 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