Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome
•Syndrome of cervical dystonia and cerebellar ataxia may represent a distinct entity•Most cases of ataxia combined with cervical dystonia are genetically indeterminate.•The CACNA1A gene encodes for the voltage-gated calcium channel subunit alpha 1A.•Mutations in the CACNA1A gene are associated with...
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| Veröffentlicht in: | Journal of the neurological sciences 2020-08, Vol.415, p.116909, Article 116909 |
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| container_start_page | 116909 |
| container_title | Journal of the neurological sciences |
| container_volume | 415 |
| creator | Fuerte-Hortigón, A. Pérez-Noguera, R. Dotor García-Soto, J. Royo Boronat, I. Álvarez de Andrés, S. García-Moreno, J.M. |
| description | •Syndrome of cervical dystonia and cerebellar ataxia may represent a distinct entity•Most cases of ataxia combined with cervical dystonia are genetically indeterminate.•The CACNA1A gene encodes for the voltage-gated calcium channel subunit alpha 1A.•Mutations in the CACNA1A gene are associated with several neurological disorders.•The novel CACNA1A variant may cause ataxia combined with cervical dystonia. |
| doi_str_mv | 10.1016/j.jns.2020.116909 |
| format | Article |
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Pérez-Noguera, R. ; Dotor García-Soto, J. ; Royo Boronat, I. ; Álvarez de Andrés, S. ; García-Moreno, J.M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c320t-1a5ecc1fb6f06841a577134d2cd861671cea26e67a89c46608de763ba26d959f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Ataxia</topic><topic>CACNA1A</topic><topic>Calcium Channels - genetics</topic><topic>Cerebellar Ataxia - complications</topic><topic>Cerebellar Ataxia - diagnostic imaging</topic><topic>Cerebellar Ataxia - genetics</topic><topic>Cerebellar Diseases</topic><topic>Clinical Neurology</topic><topic>Dystonia</topic><topic>Humans</topic><topic>Life Sciences & Biomedicine</topic><topic>Neurosciences</topic><topic>Neurosciences & Neurology</topic><topic>SCA</topic><topic>Science & Technology</topic><topic>Torticollis - complications</topic><topic>Torticollis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fuerte-Hortigón, A.</creatorcontrib><creatorcontrib>Pérez-Noguera, R.</creatorcontrib><creatorcontrib>Dotor García-Soto, J.</creatorcontrib><creatorcontrib>Royo Boronat, I.</creatorcontrib><creatorcontrib>Álvarez de Andrés, S.</creatorcontrib><creatorcontrib>García-Moreno, J.M.</creatorcontrib><collection>Web of Science - Science Citation Index Expanded - 2020</collection><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fuerte-Hortigón, A.</au><au>Pérez-Noguera, R.</au><au>Dotor García-Soto, J.</au><au>Royo Boronat, I.</au><au>Álvarez de Andrés, S.</au><au>García-Moreno, J.M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome</atitle><jtitle>Journal of the neurological sciences</jtitle><stitle>J NEUROL SCI</stitle><addtitle>J Neurol Sci</addtitle><date>2020-08-15</date><risdate>2020</risdate><volume>415</volume><spage>116909</spage><pages>116909-</pages><artnum>116909</artnum><issn>0022-510X</issn><eissn>1878-5883</eissn><abstract>•Syndrome of cervical dystonia and cerebellar ataxia may represent a distinct entity•Most cases of ataxia combined with cervical dystonia are genetically indeterminate.•The CACNA1A gene encodes for the voltage-gated calcium channel subunit alpha 1A.•Mutations in the CACNA1A gene are associated with several neurological disorders.•The novel CACNA1A variant may cause ataxia combined with cervical dystonia.</abstract><cop>AMSTERDAM</cop><pub>Elsevier B.V</pub><pmid>32480075</pmid><doi>10.1016/j.jns.2020.116909</doi><tpages>2</tpages></addata></record> |
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| subjects | Ataxia CACNA1A Calcium Channels - genetics Cerebellar Ataxia - complications Cerebellar Ataxia - diagnostic imaging Cerebellar Ataxia - genetics Cerebellar Diseases Clinical Neurology Dystonia Humans Life Sciences & Biomedicine Neurosciences Neurosciences & Neurology SCA Science & Technology Torticollis - complications Torticollis - genetics |
| title | Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome |
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