Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
Background: Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Methods: Patients with ad...
Gespeichert in:
| Veröffentlicht in: | Movement disorders 2012-03, Vol.27 (3), p.442-446 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 446 |
|---|---|
| container_issue | 3 |
| container_start_page | 442 |
| container_title | Movement disorders |
| container_volume | 27 |
| creator | Fogel, Brent L. Lee, Ji Yong Lane, Jessica Wahnich, Amanda Chan, Sandy Huang, Alden Osborn, Greg E. Klein, Eric Mamah, Catherine Perlman, Susan Geschwind, Daniel H. Coppola, Giovanni |
| description | Background:
Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
Methods:
Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
Results:
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
Conclusions:
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.24064 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3323119</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>927989619</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4824-41904422c9e0473db7a1494155e5e48cda89955e96ba4fe92b4c7a4ca9ea69f83</originalsourceid><addsrcrecordid>eNp1kUFv1DAQhS0EokvhwB9AuSDEIa3t2Il9Qapa2KK2gASIozVxJsWQ2IudQPvv6-1ul3LgYFkef_OePY-Q54weMEr54dilAy5oLR6QBZMVKxWXzUOyoErJsmJK7pEnKf2glDHJ6sdkj3OuGsrEgny6mCeYXPCpcL6IELGACa4cFJfoMRXrwuxtGMfgCwtzyrXQF2kVInTOFhYjtjgMELd9T8mjHoaEz7b7Pvn67u2X49Py_OPy_fHReWmF4qIUTFMhOLcaqWiqrm2ACS2YlChRKNuB0jofdN2C6FHzVtgGhAWNUOteVfvkzUZ3Nbcjdhb9FGEwq-hGiNcmgDP_3nj33VyG36aqeMWYzgKvtgIx_JoxTWZ0ya6_4jHMyWjeaKXrW_L1hrQxpBSx37kwatYBmByAuQ0gsy_uP2tH3k08Ay-3ACQLQx_BW5f-clJVIq_MHW64P27A6_87mouTz3fW5abDpQmvdh0Qf5q6qRppvn1YGr0UvD6rT_IYbgDR9Kxu</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>927989619</pqid></control><display><type>article</type><title>Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Fogel, Brent L. ; Lee, Ji Yong ; Lane, Jessica ; Wahnich, Amanda ; Chan, Sandy ; Huang, Alden ; Osborn, Greg E. ; Klein, Eric ; Mamah, Catherine ; Perlman, Susan ; Geschwind, Daniel H. ; Coppola, Giovanni</creator><creatorcontrib>Fogel, Brent L. ; Lee, Ji Yong ; Lane, Jessica ; Wahnich, Amanda ; Chan, Sandy ; Huang, Alden ; Osborn, Greg E. ; Klein, Eric ; Mamah, Catherine ; Perlman, Susan ; Geschwind, Daniel H. ; Coppola, Giovanni</creatorcontrib><description>Background:
Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
Methods:
Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
Results:
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
Conclusions:
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.24064</identifier><identifier>PMID: 22287014</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Biological and medical sciences ; cerebellar ataxia ; Cerebellar Ataxia - genetics ; copy number variation ; Cytoskeletal Proteins ; Databases, Bibliographic - statistics & numerical data ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Helicases ; dominant genetic conditions ; Enkephalins - genetics ; Female ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Heat-Shock Proteins - genetics ; Humans ; Lamin Type B - genetics ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Multifunctional Enzymes ; Mutation - genetics ; Nerve Tissue Proteins - genetics ; Neurology ; Nuclear Proteins - genetics ; Phenotype ; Protein Precursors - genetics ; recessive genetic conditions ; RNA Helicases - genetics ; spinocerebellar ataxia ; Transglutaminases - genetics</subject><ispartof>Movement disorders, 2012-03, Vol.27 (3), p.442-446</ispartof><rights>Copyright © 2012 Movement Disorder Society</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2012 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4824-41904422c9e0473db7a1494155e5e48cda89955e96ba4fe92b4c7a4ca9ea69f83</citedby><cites>FETCH-LOGICAL-c4824-41904422c9e0473db7a1494155e5e48cda89955e96ba4fe92b4c7a4ca9ea69f83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.24064$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.24064$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25834583$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22287014$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fogel, Brent L.</creatorcontrib><creatorcontrib>Lee, Ji Yong</creatorcontrib><creatorcontrib>Lane, Jessica</creatorcontrib><creatorcontrib>Wahnich, Amanda</creatorcontrib><creatorcontrib>Chan, Sandy</creatorcontrib><creatorcontrib>Huang, Alden</creatorcontrib><creatorcontrib>Osborn, Greg E.</creatorcontrib><creatorcontrib>Klein, Eric</creatorcontrib><creatorcontrib>Mamah, Catherine</creatorcontrib><creatorcontrib>Perlman, Susan</creatorcontrib><creatorcontrib>Geschwind, Daniel H.</creatorcontrib><creatorcontrib>Coppola, Giovanni</creatorcontrib><title>Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>Background:
Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
Methods:
Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
Results:
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
Conclusions:
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society</description><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>cerebellar ataxia</subject><subject>Cerebellar Ataxia - genetics</subject><subject>copy number variation</subject><subject>Cytoskeletal Proteins</subject><subject>Databases, Bibliographic - statistics & numerical data</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Helicases</subject><subject>dominant genetic conditions</subject><subject>Enkephalins - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Testing</subject><subject>Heat-Shock Proteins - genetics</subject><subject>Humans</subject><subject>Lamin Type B - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Multifunctional Enzymes</subject><subject>Mutation - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Nuclear Proteins - genetics</subject><subject>Phenotype</subject><subject>Protein Precursors - genetics</subject><subject>recessive genetic conditions</subject><subject>RNA Helicases - genetics</subject><subject>spinocerebellar ataxia</subject><subject>Transglutaminases - genetics</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUFv1DAQhS0EokvhwB9AuSDEIa3t2Il9Qapa2KK2gASIozVxJsWQ2IudQPvv6-1ul3LgYFkef_OePY-Q54weMEr54dilAy5oLR6QBZMVKxWXzUOyoErJsmJK7pEnKf2glDHJ6sdkj3OuGsrEgny6mCeYXPCpcL6IELGACa4cFJfoMRXrwuxtGMfgCwtzyrXQF2kVInTOFhYjtjgMELd9T8mjHoaEz7b7Pvn67u2X49Py_OPy_fHReWmF4qIUTFMhOLcaqWiqrm2ACS2YlChRKNuB0jofdN2C6FHzVtgGhAWNUOteVfvkzUZ3Nbcjdhb9FGEwq-hGiNcmgDP_3nj33VyG36aqeMWYzgKvtgIx_JoxTWZ0ya6_4jHMyWjeaKXrW_L1hrQxpBSx37kwatYBmByAuQ0gsy_uP2tH3k08Ay-3ACQLQx_BW5f-clJVIq_MHW64P27A6_87mouTz3fW5abDpQmvdh0Qf5q6qRppvn1YGr0UvD6rT_IYbgDR9Kxu</recordid><startdate>201203</startdate><enddate>201203</enddate><creator>Fogel, Brent L.</creator><creator>Lee, Ji Yong</creator><creator>Lane, Jessica</creator><creator>Wahnich, Amanda</creator><creator>Chan, Sandy</creator><creator>Huang, Alden</creator><creator>Osborn, Greg E.</creator><creator>Klein, Eric</creator><creator>Mamah, Catherine</creator><creator>Perlman, Susan</creator><creator>Geschwind, Daniel H.</creator><creator>Coppola, Giovanni</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope><scope>5PM</scope></search><sort><creationdate>201203</creationdate><title>Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia</title><author>Fogel, Brent L. ; Lee, Ji Yong ; Lane, Jessica ; Wahnich, Amanda ; Chan, Sandy ; Huang, Alden ; Osborn, Greg E. ; Klein, Eric ; Mamah, Catherine ; Perlman, Susan ; Geschwind, Daniel H. ; Coppola, Giovanni</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4824-41904422c9e0473db7a1494155e5e48cda89955e96ba4fe92b4c7a4ca9ea69f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>cerebellar ataxia</topic><topic>Cerebellar Ataxia - genetics</topic><topic>copy number variation</topic><topic>Cytoskeletal Proteins</topic><topic>Databases, Bibliographic - statistics & numerical data</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Helicases</topic><topic>dominant genetic conditions</topic><topic>Enkephalins - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic Testing</topic><topic>Heat-Shock Proteins - genetics</topic><topic>Humans</topic><topic>Lamin Type B - genetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Multifunctional Enzymes</topic><topic>Mutation - genetics</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Nuclear Proteins - genetics</topic><topic>Phenotype</topic><topic>Protein Precursors - genetics</topic><topic>recessive genetic conditions</topic><topic>RNA Helicases - genetics</topic><topic>spinocerebellar ataxia</topic><topic>Transglutaminases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fogel, Brent L.</creatorcontrib><creatorcontrib>Lee, Ji Yong</creatorcontrib><creatorcontrib>Lane, Jessica</creatorcontrib><creatorcontrib>Wahnich, Amanda</creatorcontrib><creatorcontrib>Chan, Sandy</creatorcontrib><creatorcontrib>Huang, Alden</creatorcontrib><creatorcontrib>Osborn, Greg E.</creatorcontrib><creatorcontrib>Klein, Eric</creatorcontrib><creatorcontrib>Mamah, Catherine</creatorcontrib><creatorcontrib>Perlman, Susan</creatorcontrib><creatorcontrib>Geschwind, Daniel H.</creatorcontrib><creatorcontrib>Coppola, Giovanni</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fogel, Brent L.</au><au>Lee, Ji Yong</au><au>Lane, Jessica</au><au>Wahnich, Amanda</au><au>Chan, Sandy</au><au>Huang, Alden</au><au>Osborn, Greg E.</au><au>Klein, Eric</au><au>Mamah, Catherine</au><au>Perlman, Susan</au><au>Geschwind, Daniel H.</au><au>Coppola, Giovanni</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2012-03</date><risdate>2012</risdate><volume>27</volume><issue>3</issue><spage>442</spage><epage>446</epage><pages>442-446</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>Background:
Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
Methods:
Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
Results:
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
Conclusions:
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>22287014</pmid><doi>10.1002/mds.24064</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0885-3185 |
| ispartof | Movement disorders, 2012-03, Vol.27 (3), p.442-446 |
| issn | 0885-3185 1531-8257 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3323119 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Aged Biological and medical sciences cerebellar ataxia Cerebellar Ataxia - genetics copy number variation Cytoskeletal Proteins Databases, Bibliographic - statistics & numerical data Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Helicases dominant genetic conditions Enkephalins - genetics Female Genetic Predisposition to Disease - genetics Genetic Testing Heat-Shock Proteins - genetics Humans Lamin Type B - genetics Magnetic Resonance Imaging Male Medical sciences Middle Aged Multifunctional Enzymes Mutation - genetics Nerve Tissue Proteins - genetics Neurology Nuclear Proteins - genetics Phenotype Protein Precursors - genetics recessive genetic conditions RNA Helicases - genetics spinocerebellar ataxia Transglutaminases - genetics |
| title | Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T13%3A52%3A02IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20in%20rare%20ataxia%20genes%20are%20uncommon%20causes%20of%20sporadic%20cerebellar%20ataxia&rft.jtitle=Movement%20disorders&rft.au=Fogel,%20Brent%20L.&rft.date=2012-03&rft.volume=27&rft.issue=3&rft.spage=442&rft.epage=446&rft.pages=442-446&rft.issn=0885-3185&rft.eissn=1531-8257&rft_id=info:doi/10.1002/mds.24064&rft_dat=%3Cproquest_pubme%3E927989619%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=927989619&rft_id=info:pmid/22287014&rfr_iscdi=true |