{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T17:35:40Z","timestamp":1768325740790,"version":"3.49.0"},"reference-count":13,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["N 075-15-2021-1061"],"award-info":[{"award-number":["N 075-15-2021-1061"]}]},{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["RF 193021X0029"],"award-info":[{"award-number":["RF 193021X0029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial player in neurological pathology, implicated in diverse phenotypes ranging from movement disorders to Leigh syndrome. We present a clinical case of VPS13D-associated disease with two variants in the VPS13D gene in an adult female. This case contributes to our evolving understanding of VPS13D-related diseases and underscores the importance of genetic screening in diagnosing and managing such conditions.<\/jats:p>","DOI":"10.3390\/ijms25105127","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T12:27:11Z","timestamp":1715171231000},"page":"5127","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6519-7375","authenticated-orcid":false,"given":"Denis","family":"Kistol","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3998-3609","authenticated-orcid":false,"given":"Polina","family":"Tsygankova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5337-1775","authenticated-orcid":false,"given":"Fatima","family":"Bostanova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Orlova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s11910-019-0921-3","article-title":"Movement Disorders in Metabolic Disorders","volume":"19","author":"Pedroso","year":"2019","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1002\/ana.25204","article-title":"Recessive mutations in VPS13D cause childhood onset movement disorders","volume":"83","author":"Gauthier","year":"2018","journal-title":"Ann. 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Biol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.cub.2017.11.064","article-title":"Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance","volume":"28","author":"Anding","year":"2018","journal-title":"Curr. Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e1108","DOI":"10.1002\/mgg3.1108","article-title":"VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia","volume":"8","author":"Koh","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1111\/cge.13713","article-title":"Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes","volume":"97","author":"Lee","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Kistol, D., Tsygankova, P., Krylova, T., Bychkov, I., Itkis, Y., Nikolaeva, E., Mikhailova, S., Sumina, M., Pechatnikova, N., and Kurbatov, S. (2023). Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24021597"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Pauly, M.G., Br\u00fcggemann, N., Efthymiou, S., Gr\u00f6zinger, A., Diaw, S.H., Chelban, V., Turchetti, V., Vona, B., Tadic, V., and Houlden, H. (2023). Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24031874"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3593","DOI":"10.1083\/jcb.201804111","article-title":"Competitive organelle-specific adaptors recruit Vps13 to membrane contact sites","volume":"217","author":"Bean","year":"2018","journal-title":"J. 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