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VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis. There are no other known disease\u2010specific cellular changes (eg, protein aggregation), but autopsy reports to date have been limited, often lacking genetic or biochemical diagnostic confirmation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The goal of this study was to characterize neuropathological findings in the brains of seven patients with <jats:italic>VPS13A<\/jats:italic> disease (chorea\u2010acanthocytosis).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we collected brain tissues and clinical data from seven cases of <jats:italic>VPS13A<\/jats:italic> for neuropathological analysis. The clinical diagnosis was confirmed by the presence of <jats:italic>VPS13A<\/jats:italic> mutations and\/or immunoblot showing the loss or reduction of VPS13A protein. Tissues underwent routine, special, and immunohistochemical staining focused on neurodegeneration. Electron microscopy was performed in one case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Gross examination showed severe striatal atrophy. Microscopically, there was neuronal loss and astrogliosis in affected regions. Luxol fast blue staining showed variable lipid accumulation with diverse morphology, which was further characterized by electron microscopy. In some cases, rare degenerating p62\u2010 and ubiquitin\u2010positive cells were present in affected regions. Calcifications were present in four cases, being extensive in one.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We present the largest autopsy series of biochemically and genetically confirmed <jats:italic>VPS13A<\/jats:italic> disease and identify novel histopathological findings implicating abnormal lipid accumulation. \u00a9 2023 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29589","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T01:50:37Z","timestamp":1693965037000},"page":"2163-2172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["An Autopsy Series of Seven Cases of <scp><i>VPS13A<\/i><\/scp> Disease (Chorea\u2010Acanthocytosis)"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7613-0923","authenticated-orcid":false,"suffix":"Jr.","given":"Ricky M.","family":"Ditzel","sequence":"first","affiliation":[{"name":"Department of Pathology, Molecular, and Cell Based Medicine Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Artificial Intelligence &amp; Human Health Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Nash Family Department of Neuroscience Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Friedman Brain Institute, Ronald M. 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