{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T15:52:02Z","timestamp":1777737122564,"version":"3.51.4"},"reference-count":99,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:00:00Z","timestamp":1717372800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"INAIL, Bando Ricerche in Collaborazione (BRiC) 2022 program","award":["57"],"award-info":[{"award-number":["57"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sensors"],"abstract":"<jats:p>The interpretability of gait analysis studies in people with rare diseases, such as those with primary hereditary cerebellar ataxia (pwCA), is frequently limited by the small sample sizes and unbalanced datasets. The purpose of this study was to assess the effectiveness of data balancing and generative artificial intelligence (AI) algorithms in generating synthetic data reflecting the actual gait abnormalities of pwCA. Gait data of 30 pwCA (age: 51.6 \u00b1 12.2 years; 13 females, 17 males) and 100 healthy subjects (age: 57.1 \u00b1 10.4; 60 females, 40 males) were collected at the lumbar level with an inertial measurement unit. Subsampling, oversampling, synthetic minority oversampling, generative adversarial networks, and conditional tabular generative adversarial networks (ctGAN) were applied to generate datasets to be input to a random forest classifier. Consistency and explainability metrics were also calculated to assess the coherence of the generated dataset with known gait abnormalities of pwCA. ctGAN significantly improved the classification performance compared with the original dataset and traditional data augmentation methods. ctGAN are effective methods for balancing tabular datasets from populations with rare diseases, owing to their ability to improve diagnostic models with consistent explainability.<\/jats:p>","DOI":"10.3390\/s24113613","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T10:06:01Z","timestamp":1717409161000},"page":"3613","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia"],"prefix":"10.3390","volume":"24","author":[{"given":"Dante","family":"Trabassi","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, \u201cSapienza\u201d University of Rome, 04100 Latina, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5329-5197","authenticated-orcid":false,"given":"Stefano Filippo","family":"Castiglia","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, \u201cSapienza\u201d University of Rome, 04100 Latina, Italy"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5641-1189","authenticated-orcid":false,"given":"Fabiano","family":"Bini","sequence":"additional","affiliation":[{"name":"Department of Mechanical and Aerospace Engineering, Sapienza University of Rome, 00184 Rome, Italy"}]},{"given":"Franco","family":"Marinozzi","sequence":"additional","affiliation":[{"name":"Department of Mechanical and Aerospace Engineering, Sapienza University of Rome, 00184 Rome, Italy"}]},{"given":"Arash","family":"Ajoudani","sequence":"additional","affiliation":[{"name":"Department of Advanced Robotics, Italian Institute of Technology, 16163 Genoa, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-6844","authenticated-orcid":false,"given":"Marta","family":"Lorenzini","sequence":"additional","affiliation":[{"name":"Department of Advanced Robotics, Italian Institute of Technology, 16163 Genoa, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7654-0025","authenticated-orcid":false,"given":"Giorgia","family":"Chini","sequence":"additional","affiliation":[{"name":"Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Monte Porzio Catone, 00078 Rome, Italy"}]},{"given":"Tiwana","family":"Varrecchia","sequence":"additional","affiliation":[{"name":"Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Monte Porzio Catone, 00078 Rome, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0197-6166","authenticated-orcid":false,"given":"Alberto","family":"Ranavolo","sequence":"additional","affiliation":[{"name":"Department of Occupational and Environmental Medicine, Epidemiology and Hygiene, INAIL, Monte Porzio Catone, 00078 Rome, Italy"}]},{"given":"Roberto","family":"De Icco","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"Headache Science & Neurorehabilitation Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy"}]},{"given":"Carlo","family":"Casali","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, \u201cSapienza\u201d University of Rome, 04100 Latina, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3031-680X","authenticated-orcid":false,"given":"Mariano","family":"Serrao","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, \u201cSapienza\u201d University of Rome, 04100 Latina, Italy"},{"name":"Movement Analysis Laboratory, Policlinico Italia, 00162 Rome, Italy"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1109\/JBHI.2023.3311677","article-title":"Human Locomotion Databases: A Systematic Review","volume":"28","author":"David","year":"2024","journal-title":"IEEE J. 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