{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:26:33Z","timestamp":1747196793927,"version":"3.40.5"},"reference-count":83,"publisher":"Georg Thieme Verlag KG","issue":"04","license":[{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"vor","delay-in-days":42,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Over the last decade, whole-exome sequencing (WES) has become a standard diagnostic tool, significantly transforming the landscape of clinical genetics and playing a pivotal role in the diagnosis of neurogenetic diseases. This revolutionary shift has left a lasting impact on the field of neurology in Brazil. The current review article examines key developments and milestones achieved in Brazil through the application of WES in neurology and discusses forthcoming challenges and essential steps to advance molecular diagnosis. Several studies report the use of WES to diagnose genetic disorders with neurological manifestations in Brazil, underscoring the growing importance of molecular diagnosis in neurogenetics. These studies often provide detailed phenotypic analyses and clinical descriptions, offering valuable insights into the genetic underpinnings of several neurological conditions. Many reports highlight the use of WES in the investigation of complex neurological conditions in Brazil, such as neurodevelopmental disorders, hereditary spastic paraplegia, movement disorders, and ataxia. The discovery of new genes implicated in monogenic diseases with neurological manifestations through WES was a significant breakthrough. Despite these advances, the availability of large cohort studies on rare diseases in Brazil remains limited, hindering the ability to generalize findings and explore the full spectrum of genetic diversity. However, a few larger cohort studies have substantially contributed to our understanding of rare diseases and specific neurological disorders.<\/jats:p><jats:p>While WES has limitations and may eventually be supplanted by more advanced diagnostic tools, it left a permanent mark on the neurology field in Brazil. The field of neurogenetics is set to become increasingly important in the future.<\/jats:p>","DOI":"10.1055\/s-0045-1807715","type":"journal-article","created":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T23:20:13Z","timestamp":1747178413000},"page":"001-014","source":"Crossref","is-referenced-by-count":0,"title":["A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives"],"prefix":"10.1055","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2873-2820","authenticated-orcid":false,"given":"Caio Robledo D'Angioli Costa","family":"Quaio","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Hospital das Cl\u00ednicas, Instituto da Crian\u00e7a, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7185-8309","authenticated-orcid":false,"given":"Thiago Yoshinaga Tonholo","family":"Silva","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade Federal de S\u00e3o Paulo, Escola Paulista de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-0831","authenticated-orcid":false,"given":"Orlando G.","family":"Barsottini","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade Federal de S\u00e3o Paulo, Escola Paulista de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9829-6783","authenticated-orcid":false,"given":"Sarah Teixeira","family":"Camargos","sequence":"additional","affiliation":[{"name":"Universidade Federal de Minas Gerais, Belo Horizonte MG, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"suffix":"Junior","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1141-6573","authenticated-orcid":false,"given":"Jonas A.","family":"Saute","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Medicina Interna, Porto Alegre RS, Brazil."},{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Porto Alegre RS, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4589-2749","authenticated-orcid":false,"suffix":"Junior","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina de Ribeir\u00e3o Preto, Departamento de Neuroci\u00eancias e Ci\u00eancias do Comportamento, Ribeir\u00e3o Preto SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7577-9122","authenticated-orcid":false,"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Mendelics An\u00e1lise Gen\u00f4mica, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1672-8894","authenticated-orcid":false,"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Hospital Israelita Albert Einstein, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade Federal de S\u00e3o Paulo, Escola Paulista de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,5,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1146\/annurev-med-042921-110721","article-title":"Exome\/Genome Sequencing in Undiagnosed Syndromes","volume":"74","author":"J A Sullivan","year":"2023","journal-title":"Annu Rev Med"},{"issue":"02","key":"ref2","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare 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