{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:00:30Z","timestamp":1787238030401,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,15]],"date-time":"2023-01-15T00:00:00Z","timestamp":1673740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in\n                    <jats:italic>SPAST<\/jats:italic>\n                    and\n                    <jats:italic>ATL1<\/jats:italic>\n                    and to update the molecular epidemiology of HSP families in southern Brazil. A cohort study that included 95 Brazilian index cases with clinical suspicion of HSP was conducted between April 2011 and September 2022. Multiplex Ligation Dependent Probe Amplification (MLPA) was performed in 41 cases without defined diagnosis by different massive parallel sequencing techniques (MPS). Diagnosis was obtained in 57\/95 (60%) index cases, 15\/57 (26.3%) being SPG4. Most frequent autosomal recessive HSP subtypes were SPG7 followed by SPG11, SPG76 and cerebrotendinous xanthomatosis. No CNVs in\n                    <jats:italic>SPAST<\/jats:italic>\n                    and\n                    <jats:italic>ATL1<\/jats:italic>\n                    were found. Copy number variations are rare among SPG4 and SPG3A families in Brazil. Considering the possibility of CNVs detection by specific algorithms with MPS data, we consider that this is likely the most cost\u2010effective approach to investigate CNVs in these genes in low\u2010risk populations, with MLPA being reserved as an orthogonal confirmatory test.\n                  <\/jats:p>","DOI":"10.1111\/cge.14280","type":"journal-article","created":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T04:10:48Z","timestamp":1671509448000},"page":"580-584","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Copy number variations in\n                    <i>SPAST<\/i>\n                    and\n                    <i>ATL1<\/i>\n                    are rare among\n                    <scp>Brazilians<\/scp>"],"prefix":"10.1111","volume":"103","author":[{"given":"Helena","family":"Fussiger","sequence":"first","affiliation":[{"name":"Graduate Program in Medicine: Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3980-7218","authenticated-orcid":false,"given":"Bruna Let\u00edcia da Silva","family":"Pereira","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3667-8775","authenticated-orcid":false,"given":"Janice Pacheco Dias","family":"Padilha","sequence":"additional","affiliation":[{"name":"Graduate Program in Medicine: Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre 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Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1141-6573","authenticated-orcid":false,"given":"Jonas Alex Morales","family":"Saute","sequence":"additional","affiliation":[{"name":"Graduate Program in Medicine: Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Department of Internal Medicine Universidade Federal do Rio Grande do Sul  Porto Alegre 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