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Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil
Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the FXN gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspect...
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| Published in: | Cerebellum (London, England) England), 2019-02, Vol.18 (1), p.147-151 |
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| creator | Fussiger, Helena Saraiva-Pereira, Maria Luiza Leistner-Segal, Sandra Jardim, Laura Bannach |
| description | Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the
FXN
gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspected families living in Rio Grande do Sul, South Brazil, and to estimate a minimum frequency of symptomatic subjects. Subjects that were evaluated by molecular analysis for FRDA at the Hospital de Clínicas de Porto Alegre were identified in our files. Patients’ clinical manifestation and phenotypes were described and compared. The number of FRDA subjects alive in the last 5 years was determined. One hundred fifty-six index cases (families) were submitted to evaluation of GAA repeats at
FXN
since 1997: 27 were confirmed as FRDA patients. Therefore, the diagnostic yield was 17.3%. Proportion of classical, late onset, and retained reflexes subphenotypes were similar to those described by other studies. A minimum prevalence was estimated as 0.20:100.000 inhabitants. In conclusion, we verified that this FRDA population displayed the usual clinical characteristics, but with a lower period prevalence than those obtained in populations from Europe. |
| doi_str_mv | 10.1007/s12311-018-0958-x |
| format | article |
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FXN
gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspected families living in Rio Grande do Sul, South Brazil, and to estimate a minimum frequency of symptomatic subjects. Subjects that were evaluated by molecular analysis for FRDA at the Hospital de Clínicas de Porto Alegre were identified in our files. Patients’ clinical manifestation and phenotypes were described and compared. The number of FRDA subjects alive in the last 5 years was determined. One hundred fifty-six index cases (families) were submitted to evaluation of GAA repeats at
FXN
since 1997: 27 were confirmed as FRDA patients. Therefore, the diagnostic yield was 17.3%. Proportion of classical, late onset, and retained reflexes subphenotypes were similar to those described by other studies. A minimum prevalence was estimated as 0.20:100.000 inhabitants. In conclusion, we verified that this FRDA population displayed the usual clinical characteristics, but with a lower period prevalence than those obtained in populations from Europe.</description><identifier>ISSN: 1473-4222</identifier><identifier>EISSN: 1473-4230</identifier><identifier>DOI: 10.1007/s12311-018-0958-x</identifier><identifier>PMID: 29938355</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Age of Onset ; Ataxia ; Biomedical and Life Sciences ; Biomedicine ; Brazil - epidemiology ; Cross-Sectional Studies ; Frataxin ; Friedreich Ataxia - diagnosis ; Friedreich Ataxia - epidemiology ; Friedreich Ataxia - genetics ; Friedreich's ataxia ; Hereditary diseases ; Humans ; Iron-Binding Proteins - genetics ; Medical diagnosis ; Neurobiology ; Neurology ; Neurosciences ; Phenotype ; Phenotypes ; Prevalence ; Reflexes ; Short Report ; Trinucleotide Repeat Expansion</subject><ispartof>Cerebellum (London, England), 2019-02, Vol.18 (1), p.147-151</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2018</rights><rights>The Cerebellum is a copyright of Springer, (2018). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-518d1362d05b22ba522ba647163603ae89db38a06bee1adf546e8591882916143</citedby><cites>FETCH-LOGICAL-c372t-518d1362d05b22ba522ba647163603ae89db38a06bee1adf546e8591882916143</cites><orcidid>0000-0001-6907-5068</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29938355$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fussiger, Helena</creatorcontrib><creatorcontrib>Saraiva-Pereira, Maria Luiza</creatorcontrib><creatorcontrib>Leistner-Segal, Sandra</creatorcontrib><creatorcontrib>Jardim, Laura Bannach</creatorcontrib><title>Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil</title><title>Cerebellum (London, England)</title><addtitle>Cerebellum</addtitle><addtitle>Cerebellum</addtitle><description>Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the
FXN
gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspected families living in Rio Grande do Sul, South Brazil, and to estimate a minimum frequency of symptomatic subjects. Subjects that were evaluated by molecular analysis for FRDA at the Hospital de Clínicas de Porto Alegre were identified in our files. Patients’ clinical manifestation and phenotypes were described and compared. The number of FRDA subjects alive in the last 5 years was determined. One hundred fifty-six index cases (families) were submitted to evaluation of GAA repeats at
FXN
since 1997: 27 were confirmed as FRDA patients. Therefore, the diagnostic yield was 17.3%. Proportion of classical, late onset, and retained reflexes subphenotypes were similar to those described by other studies. A minimum prevalence was estimated as 0.20:100.000 inhabitants. In conclusion, we verified that this FRDA population displayed the usual clinical characteristics, but with a lower period prevalence than those obtained in populations from Europe.</description><subject>Age of Onset</subject><subject>Ataxia</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brazil - epidemiology</subject><subject>Cross-Sectional Studies</subject><subject>Frataxin</subject><subject>Friedreich Ataxia - diagnosis</subject><subject>Friedreich Ataxia - epidemiology</subject><subject>Friedreich Ataxia - genetics</subject><subject>Friedreich's ataxia</subject><subject>Hereditary diseases</subject><subject>Humans</subject><subject>Iron-Binding Proteins - genetics</subject><subject>Medical diagnosis</subject><subject>Neurobiology</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Prevalence</subject><subject>Reflexes</subject><subject>Short Report</subject><subject>Trinucleotide Repeat Expansion</subject><issn>1473-4222</issn><issn>1473-4230</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp1kDFPwzAQhS0EoqXwA1iQJWaDz44Th60UCpWKGICByXJit3WVJsVOpJZfT6qUMrHcnXTv3jt9CF0CvQFKk9sAjAMQCpLQVEiyOUJ9iBJOIsbp8WFmrIfOQlhSyhiNklPUY2nKJReijyZj76zx1uULPKz1xuk7_OD0vKxC7XL86WxhsC4NfnGlW-kCj739amyZb7Er8VvV1At87_W3K87RyUwXwV7s-wB9jB_fR89k-vo0GQ2nJOcJq4kAaYDHzFCRMZZpsStxlEDMY8q1lanJuNQ0zqwFbWYiiq0UKUjJUogh4gN03fmufdV-Emq1rBpftpGKUSF5sldBp8p9FYK3M7X27f9-q4CqHTzVwVMtPLWDpzbtzdXeuclW1hwufmm1AtYJQrsq59b_Rf_v-gOdDHg9</recordid><startdate>20190201</startdate><enddate>20190201</enddate><creator>Fussiger, Helena</creator><creator>Saraiva-Pereira, Maria Luiza</creator><creator>Leistner-Segal, Sandra</creator><creator>Jardim, Laura Bannach</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><orcidid>https://orcid.org/0000-0001-6907-5068</orcidid></search><sort><creationdate>20190201</creationdate><title>Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil</title><author>Fussiger, Helena ; Saraiva-Pereira, Maria Luiza ; Leistner-Segal, Sandra ; Jardim, Laura Bannach</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c372t-518d1362d05b22ba522ba647163603ae89db38a06bee1adf546e8591882916143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Age of Onset</topic><topic>Ataxia</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brazil - epidemiology</topic><topic>Cross-Sectional Studies</topic><topic>Frataxin</topic><topic>Friedreich Ataxia - diagnosis</topic><topic>Friedreich Ataxia - epidemiology</topic><topic>Friedreich Ataxia - genetics</topic><topic>Friedreich's ataxia</topic><topic>Hereditary diseases</topic><topic>Humans</topic><topic>Iron-Binding Proteins - genetics</topic><topic>Medical diagnosis</topic><topic>Neurobiology</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Prevalence</topic><topic>Reflexes</topic><topic>Short Report</topic><topic>Trinucleotide Repeat Expansion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fussiger, Helena</creatorcontrib><creatorcontrib>Saraiva-Pereira, Maria Luiza</creatorcontrib><creatorcontrib>Leistner-Segal, Sandra</creatorcontrib><creatorcontrib>Jardim, Laura Bannach</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database (ProQuest)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection (Proquest)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database (ProQuest)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><jtitle>Cerebellum (London, England)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fussiger, Helena</au><au>Saraiva-Pereira, Maria Luiza</au><au>Leistner-Segal, Sandra</au><au>Jardim, Laura Bannach</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil</atitle><jtitle>Cerebellum (London, England)</jtitle><stitle>Cerebellum</stitle><addtitle>Cerebellum</addtitle><date>2019-02-01</date><risdate>2019</risdate><volume>18</volume><issue>1</issue><spage>147</spage><epage>151</epage><pages>147-151</pages><issn>1473-4222</issn><eissn>1473-4230</eissn><abstract>Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the
FXN
gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspected families living in Rio Grande do Sul, South Brazil, and to estimate a minimum frequency of symptomatic subjects. Subjects that were evaluated by molecular analysis for FRDA at the Hospital de Clínicas de Porto Alegre were identified in our files. Patients’ clinical manifestation and phenotypes were described and compared. The number of FRDA subjects alive in the last 5 years was determined. One hundred fifty-six index cases (families) were submitted to evaluation of GAA repeats at
FXN
since 1997: 27 were confirmed as FRDA patients. Therefore, the diagnostic yield was 17.3%. Proportion of classical, late onset, and retained reflexes subphenotypes were similar to those described by other studies. A minimum prevalence was estimated as 0.20:100.000 inhabitants. In conclusion, we verified that this FRDA population displayed the usual clinical characteristics, but with a lower period prevalence than those obtained in populations from Europe.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>29938355</pmid><doi>10.1007/s12311-018-0958-x</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-6907-5068</orcidid></addata></record> |
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| subjects | Age of Onset Ataxia Biomedical and Life Sciences Biomedicine Brazil - epidemiology Cross-Sectional Studies Frataxin Friedreich Ataxia - diagnosis Friedreich Ataxia - epidemiology Friedreich Ataxia - genetics Friedreich's ataxia Hereditary diseases Humans Iron-Binding Proteins - genetics Medical diagnosis Neurobiology Neurology Neurosciences Phenotype Phenotypes Prevalence Reflexes Short Report Trinucleotide Repeat Expansion |
| title | Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil |
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