Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
Intronic GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA- 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- ataxia in a large co...
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| Veröffentlicht in: | Neurology. Genetics 2023-10, Vol.9 (5), p.e200094 |
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| creator | Novis, Luiz Eduardo Frezatti, Rodrigo S Pellerin, David Tomaselli, Pedro J Alavi, Shahryar Della Coleta, Marcus Vinícius Spitz, Mariana Dicaire, Marie-Josée Iruzubieta, Pablo Pedroso, José Luiz Barsottini, Orlando Cortese, Andrea Danzi, Matt C França, Jr, Marcondes C Brais, Bernard Zuchner, Stephan Houlden, Henry Raskin, Salmo Marques, Wilson Teive, Helio A |
| description | Intronic
GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-
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-
ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the
repeat locus. Patients were recruited across 4 different regions of Brazil.
Of the 93 index patients, 8 (9%) carried an
(GAA)
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)
expansion developed ataxia at age 28 years, confirming that GAA-
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%).
Our results suggest that GAA-
ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology. |
| doi_str_mv | 10.1212/NXG.0000000000200094 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10461713</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2858994494</sourcerecordid><originalsourceid>FETCH-LOGICAL-c409t-de4535bb191c989c7f0eea06c270a5cef6dde03f7a7bc4476f6bd3c97a5af5363</originalsourceid><addsrcrecordid>eNpdUU1PGzEQtVBRQcA_qJCPvSzYa-86PlXbiASkqHAAtTdr1jtLXG3W1HYQ8OtxRBoBI41mpHnz5uMR8o2zM17y8vzXn_kZ21mZXcs9clgKVRdqIvSXd_kBOYnxb4bwSiih2VdykEuyZqw6JGEW8N8aR_tMfU_nTVPQ2XzGJW0SPDmgbqRAFxDukU790oe0gf0M8OIGByO9geRwTJH-dmlJ78boh0fsaNOth1RcjxETnWLAFocBwpbzmOz3MEQ82cYjcje7uJ1eFovr-dW0WRRWMp2KDmUlqrblmls90Vb1DBFYbUvFoLLY112HTPQKVGulVHVft52wWkEFfSVqcUR-vPE-rNsVdjbvGWAwD8GtIDwbD858rIxuae79o-FM1lxxkRm-bxmCz0-KyaxctJtbRvTraMpJNdFaSi0zVL5BbfAxBux3czgzG8lMlsx8liy3nb7fcdf0XyDxCq01khU</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2858994494</pqid></control><display><type>article</type><title>Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia</title><source>Wolters Kluwer Open Health</source><source>DOAJ Directory of Open Access Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Journals@Ovid Complete</source><creator>Novis, Luiz Eduardo ; Frezatti, Rodrigo S ; Pellerin, David ; Tomaselli, Pedro J ; Alavi, Shahryar ; Della Coleta, Marcus Vinícius ; Spitz, Mariana ; Dicaire, Marie-Josée ; Iruzubieta, Pablo ; Pedroso, José Luiz ; Barsottini, Orlando ; Cortese, Andrea ; Danzi, Matt C ; França, Jr, Marcondes C ; Brais, Bernard ; Zuchner, Stephan ; Houlden, Henry ; Raskin, Salmo ; Marques, Wilson ; Teive, Helio A</creator><creatorcontrib>Novis, Luiz Eduardo ; Frezatti, Rodrigo S ; Pellerin, David ; Tomaselli, Pedro J ; Alavi, Shahryar ; Della Coleta, Marcus Vinícius ; Spitz, Mariana ; Dicaire, Marie-Josée ; Iruzubieta, Pablo ; Pedroso, José Luiz ; Barsottini, Orlando ; Cortese, Andrea ; Danzi, Matt C ; França, Jr, Marcondes C ; Brais, Bernard ; Zuchner, Stephan ; Houlden, Henry ; Raskin, Salmo ; Marques, Wilson ; Teive, Helio A</creatorcontrib><description>Intronic
GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-
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-
ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the
repeat locus. Patients were recruited across 4 different regions of Brazil.
Of the 93 index patients, 8 (9%) carried an
(GAA)
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)
expansion developed ataxia at age 28 years, confirming that GAA-
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%).
Our results suggest that GAA-
ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.</description><identifier>ISSN: 2376-7839</identifier><identifier>EISSN: 2376-7839</identifier><identifier>DOI: 10.1212/NXG.0000000000200094</identifier><identifier>PMID: 37646005</identifier><language>eng</language><publisher>United States: Wolters Kluwer</publisher><subject>Clinical/Scientific Note</subject><ispartof>Neurology. Genetics, 2023-10, Vol.9 (5), p.e200094</ispartof><rights>Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.</rights><rights>Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. 2023 American Academy of Neurology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-de4535bb191c989c7f0eea06c270a5cef6dde03f7a7bc4476f6bd3c97a5af5363</citedby><cites>FETCH-LOGICAL-c409t-de4535bb191c989c7f0eea06c270a5cef6dde03f7a7bc4476f6bd3c97a5af5363</cites><orcidid>0000-0002-0107-0831 ; 0000-0003-1479-2953 ; 0000-0002-2866-7777 ; 0000-0002-1485-3771 ; 0000-0003-1394-3561 ; 0000-0002-1672-8894 ; 0000-0003-2305-1073</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10461713/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10461713/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37646005$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Novis, Luiz Eduardo</creatorcontrib><creatorcontrib>Frezatti, Rodrigo S</creatorcontrib><creatorcontrib>Pellerin, David</creatorcontrib><creatorcontrib>Tomaselli, Pedro J</creatorcontrib><creatorcontrib>Alavi, Shahryar</creatorcontrib><creatorcontrib>Della Coleta, Marcus Vinícius</creatorcontrib><creatorcontrib>Spitz, Mariana</creatorcontrib><creatorcontrib>Dicaire, Marie-Josée</creatorcontrib><creatorcontrib>Iruzubieta, Pablo</creatorcontrib><creatorcontrib>Pedroso, José Luiz</creatorcontrib><creatorcontrib>Barsottini, Orlando</creatorcontrib><creatorcontrib>Cortese, Andrea</creatorcontrib><creatorcontrib>Danzi, Matt C</creatorcontrib><creatorcontrib>França, Jr, Marcondes C</creatorcontrib><creatorcontrib>Brais, Bernard</creatorcontrib><creatorcontrib>Zuchner, Stephan</creatorcontrib><creatorcontrib>Houlden, Henry</creatorcontrib><creatorcontrib>Raskin, Salmo</creatorcontrib><creatorcontrib>Marques, Wilson</creatorcontrib><creatorcontrib>Teive, Helio A</creatorcontrib><title>Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia</title><title>Neurology. Genetics</title><addtitle>Neurol Genet</addtitle><description>Intronic
GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-
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-
ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the
repeat locus. Patients were recruited across 4 different regions of Brazil.
Of the 93 index patients, 8 (9%) carried an
(GAA)
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)
expansion developed ataxia at age 28 years, confirming that GAA-
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%).
Our results suggest that GAA-
ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.</description><subject>Clinical/Scientific Note</subject><issn>2376-7839</issn><issn>2376-7839</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNpdUU1PGzEQtVBRQcA_qJCPvSzYa-86PlXbiASkqHAAtTdr1jtLXG3W1HYQ8OtxRBoBI41mpHnz5uMR8o2zM17y8vzXn_kZ21mZXcs9clgKVRdqIvSXd_kBOYnxb4bwSiih2VdykEuyZqw6JGEW8N8aR_tMfU_nTVPQ2XzGJW0SPDmgbqRAFxDukU790oe0gf0M8OIGByO9geRwTJH-dmlJ78boh0fsaNOth1RcjxETnWLAFocBwpbzmOz3MEQ82cYjcje7uJ1eFovr-dW0WRRWMp2KDmUlqrblmls90Vb1DBFYbUvFoLLY112HTPQKVGulVHVft52wWkEFfSVqcUR-vPE-rNsVdjbvGWAwD8GtIDwbD858rIxuae79o-FM1lxxkRm-bxmCz0-KyaxctJtbRvTraMpJNdFaSi0zVL5BbfAxBux3czgzG8lMlsx8liy3nb7fcdf0XyDxCq01khU</recordid><startdate>20231001</startdate><enddate>20231001</enddate><creator>Novis, Luiz Eduardo</creator><creator>Frezatti, Rodrigo S</creator><creator>Pellerin, David</creator><creator>Tomaselli, Pedro J</creator><creator>Alavi, Shahryar</creator><creator>Della Coleta, Marcus Vinícius</creator><creator>Spitz, Mariana</creator><creator>Dicaire, Marie-Josée</creator><creator>Iruzubieta, Pablo</creator><creator>Pedroso, José Luiz</creator><creator>Barsottini, Orlando</creator><creator>Cortese, Andrea</creator><creator>Danzi, Matt C</creator><creator>França, Jr, Marcondes C</creator><creator>Brais, Bernard</creator><creator>Zuchner, Stephan</creator><creator>Houlden, Henry</creator><creator>Raskin, Salmo</creator><creator>Marques, Wilson</creator><creator>Teive, Helio A</creator><general>Wolters Kluwer</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0107-0831</orcidid><orcidid>https://orcid.org/0000-0003-1479-2953</orcidid><orcidid>https://orcid.org/0000-0002-2866-7777</orcidid><orcidid>https://orcid.org/0000-0002-1485-3771</orcidid><orcidid>https://orcid.org/0000-0003-1394-3561</orcidid><orcidid>https://orcid.org/0000-0002-1672-8894</orcidid><orcidid>https://orcid.org/0000-0003-2305-1073</orcidid></search><sort><creationdate>20231001</creationdate><title>Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia</title><author>Novis, Luiz Eduardo ; Frezatti, Rodrigo S ; Pellerin, David ; Tomaselli, Pedro J ; Alavi, Shahryar ; Della Coleta, Marcus Vinícius ; Spitz, Mariana ; Dicaire, Marie-Josée ; Iruzubieta, Pablo ; Pedroso, José Luiz ; Barsottini, Orlando ; Cortese, Andrea ; Danzi, Matt C ; França, Jr, Marcondes C ; Brais, Bernard ; Zuchner, Stephan ; Houlden, Henry ; Raskin, Salmo ; Marques, Wilson ; Teive, Helio A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-de4535bb191c989c7f0eea06c270a5cef6dde03f7a7bc4476f6bd3c97a5af5363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Clinical/Scientific Note</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Novis, Luiz Eduardo</creatorcontrib><creatorcontrib>Frezatti, Rodrigo S</creatorcontrib><creatorcontrib>Pellerin, David</creatorcontrib><creatorcontrib>Tomaselli, Pedro J</creatorcontrib><creatorcontrib>Alavi, Shahryar</creatorcontrib><creatorcontrib>Della Coleta, Marcus Vinícius</creatorcontrib><creatorcontrib>Spitz, Mariana</creatorcontrib><creatorcontrib>Dicaire, Marie-Josée</creatorcontrib><creatorcontrib>Iruzubieta, Pablo</creatorcontrib><creatorcontrib>Pedroso, José Luiz</creatorcontrib><creatorcontrib>Barsottini, Orlando</creatorcontrib><creatorcontrib>Cortese, Andrea</creatorcontrib><creatorcontrib>Danzi, Matt C</creatorcontrib><creatorcontrib>França, Jr, Marcondes C</creatorcontrib><creatorcontrib>Brais, Bernard</creatorcontrib><creatorcontrib>Zuchner, Stephan</creatorcontrib><creatorcontrib>Houlden, Henry</creatorcontrib><creatorcontrib>Raskin, Salmo</creatorcontrib><creatorcontrib>Marques, Wilson</creatorcontrib><creatorcontrib>Teive, Helio A</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Neurology. Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Novis, Luiz Eduardo</au><au>Frezatti, Rodrigo S</au><au>Pellerin, David</au><au>Tomaselli, Pedro J</au><au>Alavi, Shahryar</au><au>Della Coleta, Marcus Vinícius</au><au>Spitz, Mariana</au><au>Dicaire, Marie-Josée</au><au>Iruzubieta, Pablo</au><au>Pedroso, José Luiz</au><au>Barsottini, Orlando</au><au>Cortese, Andrea</au><au>Danzi, Matt C</au><au>França, Jr, Marcondes C</au><au>Brais, Bernard</au><au>Zuchner, Stephan</au><au>Houlden, Henry</au><au>Raskin, Salmo</au><au>Marques, Wilson</au><au>Teive, Helio A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia</atitle><jtitle>Neurology. Genetics</jtitle><addtitle>Neurol Genet</addtitle><date>2023-10-01</date><risdate>2023</risdate><volume>9</volume><issue>5</issue><spage>e200094</spage><pages>e200094-</pages><issn>2376-7839</issn><eissn>2376-7839</eissn><abstract>Intronic
GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-
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-
ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the
repeat locus. Patients were recruited across 4 different regions of Brazil.
Of the 93 index patients, 8 (9%) carried an
(GAA)
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)
expansion developed ataxia at age 28 years, confirming that GAA-
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%).
Our results suggest that GAA-
ataxia is a common cause of adult-onset ataxia in the Brazilian population, although larger studies are needed to fully define its epidemiology.</abstract><cop>United States</cop><pub>Wolters Kluwer</pub><pmid>37646005</pmid><doi>10.1212/NXG.0000000000200094</doi><orcidid>https://orcid.org/0000-0002-0107-0831</orcidid><orcidid>https://orcid.org/0000-0003-1479-2953</orcidid><orcidid>https://orcid.org/0000-0002-2866-7777</orcidid><orcidid>https://orcid.org/0000-0002-1485-3771</orcidid><orcidid>https://orcid.org/0000-0003-1394-3561</orcidid><orcidid>https://orcid.org/0000-0002-1672-8894</orcidid><orcidid>https://orcid.org/0000-0003-2305-1073</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Wolters Kluwer Open Health; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Journals@Ovid Complete |
| subjects | Clinical/Scientific Note |
| title | Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia |
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