{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T19:58:48Z","timestamp":1768420728023,"version":"3.49.0"},"reference-count":26,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:00:00Z","timestamp":1746748800000},"content-version":"vor","delay-in-days":69,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Janssen-Cilag Farmac\u00eautica"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Niemann-Pick type-C (NPC) disease is a rare genetic condition with a clinical spectrum ranging from a fatal prenatally-presenting and quickly lethal disorder to an adult-onset chronic neurodegenerative condition. Given the scarcity of information regarding NPC disease in Brazil, a group of experts decided to discuss some disease-related aspects at the national level. The present manuscript describes the results of a Brazilian consensus meeting conducted to propose recommendations for the diagnosis, management, and follow-up of NPC disease in Brazil, considering the clinical practice point of view. These recommendations include patient characteristics on clinical presentation, as systemic and neurological manifestations according to the age group and atypical manifestations; a flowchart for diagnostic confirmation, considering the Brazilian scenario; and treatment, encompassing disease-modifying therapy, supportive care, and patients' follow-up. The expert panel provided an objective basis of recommendations on NPC diagnosis and management in Brazil. The authors expect that this manuscript will help clinicians to identify, adequately treat and follow-up NPC patients in Brazil.<\/jats:p>","DOI":"10.1055\/s-0045-1807714","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T23:49:46Z","timestamp":1746834586000},"page":"001-008","source":"Crossref","is-referenced-by-count":1,"title":["Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective"],"prefix":"10.1055","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7726-4301","authenticated-orcid":false,"given":"Dafne Dain Gandelman","family":"Horovitz","sequence":"additional","affiliation":[{"name":"Funda\u00e7\u00e3o Oswaldo Cruz, Instituto Nacional de Sa\u00fade da Mulher, da Crian\u00e7a e do Adolescente Fernandes Figueira, Departamento de Gen\u00e9tica M\u00e9dica, Rio de Janeiro RJ, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0043-5373","authenticated-orcid":false,"given":"Andr\u00e9","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Hospital Infantil Albert Sabin, Servi\u00e7o de Neurologia e Neurogen\u00e9tica, Fortaleza CE, Brazil."},{"name":"Universidade Federal do Cear\u00e1, Faculdade de Medicina, Fortaleza CE, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"given":"Marcondes Cavalcante","family":"Fran\u00e7a Junior","sequence":"additional","affiliation":[{"name":"Universidade Estadual de de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Departamento de Neurologia, Campinas SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Departamento de Gen\u00e9tica M\u00e9dica, Porto Alegre RS, Brazil."},{"name":"Dasa Gen\u00f4mica, Porto Alegre RS, Brazil."},{"name":"Casa dos Raros, Centro de Aten\u00e7\u00e3o Integral e Treinamento em Doen\u00e7as Raras, 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\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina Fischinger Moura de","family":"Souza","sequence":"additional","affiliation":[{"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\/0000-0001-5387-6418","authenticated-orcid":false,"given":"Em\u00edlia Katiane","family":"Embiru\u00e7u","sequence":"additional","affiliation":[{"name":"Universidade do Estado da Bahia, Departamento de Ci\u00eancias da Vida, Salvador BA, Brazil."},{"name":"Hospital Universit\u00e1rio Professor Edgard Santos, Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Salvador BA, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9186-9243","authenticated-orcid":false,"given":"Pedro","family":"Braga-Neto","sequence":"additional","affiliation":[{"name":"Universidade Federal do Cear\u00e1, Faculdade de Medicina, Fortaleza CE, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2296-6098","authenticated-orcid":false,"given":"Charles 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