{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:22:01Z","timestamp":1787775721431,"version":"build-2784847793"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Friedreich's ataxia (FRDA) is caused by homozygous GAA repeat expansions or compound heterozygous (CH) mutations in\n                      <jats:italic toggle=\"yes\">FXN<\/jats:italic>\n                      gene. Its broad clinical spectrum makes it difficult to identify, thus an accurate diagnosis can only be made by genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>\n                      This study aims to present data on\n                      <jats:italic toggle=\"yes\">FXN<\/jats:italic>\n                      variants observed in patients with sporadic or recessive ataxia, including detailed data of the first CH Mexican patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      One hundred and eight patients with recessive or sporadic cerebellar ataxia were referred to our institution between 2009 and 2019 for\n                      <jats:italic toggle=\"yes\">FXN<\/jats:italic>\n                      molecular testing. This was achieved using a combined methodology of triplet repeat-primed PCR (polymerase chain reaction), long PCR,\n                      <jats:italic toggle=\"yes\">FXN<\/jats:italic>\n                      sequencing and multiplex-ligation probe-amplification.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Eighteen patients had a homozygous\n                      <jats:italic toggle=\"yes\">FXN<\/jats:italic>\n                      genotype; whereas five were CH patients with a slow progression and phenotypic variability, including a late-onset case with spastic paraparesis, and a Charcot-Marie-Tooth-like case.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>These first Mexican CH patients pose important implications for genetic counseling and FRDA management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.329555","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T15:07:22Z","timestamp":1725721642000},"page":"1363-1367","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations"],"prefix":"10.4103","volume":"69","author":[{"given":"Marie Catherine","family":"Boll","sequence":"first","affiliation":[{"name":"Clinical Research Laboratory, Ataxias, Chorea and Other Rare Neurodegenerative Diseases, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda \u201cManuel Velasco Su\u00b4rez\u201d (INNNMVS), Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianela","family":"Gasca-Salda\u00f1a","sequence":"additional","affiliation":[{"name":"Clinical Research Laboratory, Ataxias, Chorea and Other Rare Neurodegenerative Diseases, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda \u201cManuel Velasco Su\u00b4rez\u201d (INNNMVS), Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yerye Gibr\u00e1n","family":"May\u00e9n-Lobo","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda \u201cManuel Velasco Su\u00e1rez\u201d, Mexico City, Mexico"},{"name":"Department of Biological Systems, Metropolitan Autonomous University-Xochimilco, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David Jos\u00e9","family":"D\u00e1vila-Ortiz de Montellano","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda \u201cManuel Velasco Su\u00e1rez\u201d, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Monroy-Jaramillo","sequence":"additional","affiliation":[{"name":"Department of Genetics, Instituto Nacional de Neurolog\u00eda y Neurocirug\u00eda \u201cManuel Velasco Su\u00e1rez\u201d, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"R2-20250925","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"R3-20250925","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ana.24595","article-title":"Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia","volume":"79","author":"Galea","year":"2016","journal-title":"Ann Neurol"},{"key":"R4-20250925","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.ygeno.2004.07.014","article-title":"Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population","volume":"84","author":"Gomez","year":"2004","journal-title":"Genomics"},{"key":"R5-20250925","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1136\/jnnp.2006.090449","article-title":"Clinical heterogeneity of recessive ataxia in the Mexican population","volume":"77","author":"Rasmussen","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R6-20250925","first-page":"1","article-title":"Best Practice Guidelines for Molecular Analysis of Friedreich 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profile of compound heterozygous Friedreich's ataxia patients-the Brazilian experience","volume":"18","author":"Peluzzo","year":"2019","journal-title":"Cerebellum"},{"key":"R14-20250925","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10048-019-00594-1","article-title":"The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype","volume":"21","author":"Candayan","year":"2020","journal-title":"Neurogenetics"},{"key":"R15-20250925","first-page":"e6","article-title":"Worsening cardiac function in a patient with Friedreich's ataxia secondary to profound hypothyroidism","volume":"5","author":"Thrasher","year":"2018","journal-title":"ECEDReports"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:40:28Z","timestamp":1787773228000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.329555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.329555","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"2020-10-10","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-29","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}