{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T08:06:02Z","timestamp":1784793962296,"version":"3.55.0"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:00:00Z","timestamp":1784764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:00:00Z","timestamp":1784764800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      SPG46 is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic\n                      <jats:italic>GBA2<\/jats:italic>\n                      mutations. As a rare and still poorly understood condition, information about its clinical and genetic spectrum is scarce.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to delineate the clinical, neuroimaging, and genetic characteristics of a Brazilian SPG46 cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted a retrospective cross\u2010sectional study at two referral centers, identifying nine patients from six unrelated families harboring pathogenic\n                      <jats:italic>GBA2<\/jats:italic>\n                      variants through whole\u2010exome sequencing. Demographic, clinical, neuroimaging, and genetic data were systematically analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The cohort (4 males, 5 females) presented disease onset between 6 and 24\u2009years (mean, 10.7). All exhibited progressive spastic paraplegia associated with cerebellar ataxia, dysarthria, and cognitive impairment. Psychiatric manifestations, sleep disturbances, skeletal deformities, and dystonia were frequent. Cerebellar atrophy was observed in four cases, whereas corpus callosum thinning, cataracts, and hearing impairment were absent.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The recurrent\n                      <jats:italic>GBA2<\/jats:italic>\n                      c.1365G&gt;C;p.(Trp455Cys) variant suggests a potential founder effect and expands the phenotypic spectrum of SPG46 in Brazil.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70733","type":"journal-article","created":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T07:42:32Z","timestamp":1784792552000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unraveling\n                    <scp>SPG46<\/scp>\n                    : Clinical, Genetic, and Neuroimaging Features"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1416-955X","authenticated-orcid":false,"given":"Raphael Pinheiro Camurugy","family":"da Hora","sequence":"first","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7303-6512","authenticated-orcid":false,"given":"Victor","family":"Rebelo Procaci","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falian Let\u00edcia","family":"Freitas","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo 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Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5250-8602","authenticated-orcid":false,"given":"Pedro","family":"Fraiman","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Thereza Drumond","family":"Gama","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katiane Raisa","family":"Servelhere","sequence":"additional","affiliation":[{"name":"Division of General Neurology and Ataxia Unit, Department of Neurology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcondes 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