Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Teive
{"title":"GAA-FGF14共济失调在未解决的成年性小脑性共济失调的巴西大队列患者中的频率","authors":"Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Teive","doi":"10.1212/NXG.0000000000200094","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Intronic <i>FGF14</i> GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-<i>FGF14</i> ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA-<i>FGF14</i> ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.</p><p><strong>Methods: </strong>We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the <i>FGF14</i> repeat locus. Patients were recruited across 4 different regions of Brazil.</p><p><strong>Results: </strong>Of the 93 index patients, 8 (9%) carried an <i>FGF14</i> (GAA)<sub>≥250</sub> expansion. The expansion was also identified in 1 affected relative. Seven patients were of European descent, 1 was of African descent, and 1was of admixed American ancestry. One patient carrying a (GAA)<sub>376</sub> expansion developed ataxia at age 28 years, confirming that GAA-<i>FGF14</i> ataxia can occur before the age of 30 years. One patient displayed episodic symptoms, while none had downbeat nystagmus. Cerebellar atrophy was observed on brain MRI in 7 of 8 patients (87%).</p><p><strong>Discussion: </strong>Our results suggest that GAA-<i>FGF14</i> ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.</p>","PeriodicalId":48613,"journal":{"name":"Neurology-Genetics","volume":"9 5","pages":"e200094"},"PeriodicalIF":3.0000,"publicationDate":"2023-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10461713/pdf/","citationCount":"0","resultStr":"{\"title\":\"Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.\",\"authors\":\"Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro J Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Helio A Teive\",\"doi\":\"10.1212/NXG.0000000000200094\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>Intronic <i>FGF14</i> GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-<i>FGF14</i> ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA-<i>FGF14</i> ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.</p><p><strong>Methods: </strong>We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the <i>FGF14</i> repeat locus. Patients were recruited across 4 different regions of Brazil.</p><p><strong>Results: </strong>Of the 93 index patients, 8 (9%) carried an <i>FGF14</i> (GAA)<sub>≥250</sub> expansion. The expansion was also identified in 1 affected relative. Seven patients were of European descent, 1 was of African descent, and 1was of admixed American ancestry. One patient carrying a (GAA)<sub>376</sub> expansion developed ataxia at age 28 years, confirming that GAA-<i>FGF14</i> ataxia can occur before the age of 30 years. One patient displayed episodic symptoms, while none had downbeat nystagmus. Cerebellar atrophy was observed on brain MRI in 7 of 8 patients (87%).</p><p><strong>Discussion: </strong>Our results suggest that GAA-<i>FGF14</i> ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.</p>\",\"PeriodicalId\":48613,\"journal\":{\"name\":\"Neurology-Genetics\",\"volume\":\"9 5\",\"pages\":\"e200094\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2023-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10461713/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology-Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1212/NXG.0000000000200094\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology-Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1212/NXG.0000000000200094","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Objectives: Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
Methods: We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the FGF14 repeat locus. Patients were recruited across 4 different regions of Brazil.
Results: Of the 93 index patients, 8 (9%) carried an FGF14 (GAA)≥250 expansion. The expansion was also identified in 1 affected relative. Seven patients were of European descent, 1 was of African descent, and 1was of admixed American ancestry. One patient carrying a (GAA)376 expansion developed ataxia at age 28 years, confirming that GAA-FGF14 ataxia can occur before the age of 30 years. One patient displayed episodic symptoms, while none had downbeat nystagmus. Cerebellar atrophy was observed on brain MRI in 7 of 8 patients (87%).
Discussion: Our results suggest that GAA-FGF14 ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.
期刊介绍：
Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
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