{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T14:30:54Z","timestamp":1694010654527},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"28","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> Next generation sequencing (NGS) technologies reshape the diagnostics of rare neurological diseases. In the background of certain neurological symptoms, such as ataxia, many acquired and genetic causes may be present. Variations in a given gene can present with variable phenotypes, too. Because of this phenomenon, the conventional one gene sequencing approach often fails to identify the genetic background of a disease. Next generation sequencing panels allow to sequence 50\u2013100 genes simultaneously, and if the disease stratification is not possible based on the clinical symptoms, whole exome sequencing can help in the diagnostic of genetic disorders with atypical presentation. This case study is about the exome sequencing of a patient with cerebellar ataxia. Genetic investigations identified rare variants in the SPG11 gene in association with the clinical phenotype, which gene was originally described in the background of hereditary spastic paraparesis. Our article highlights that in certain cases the variability of the leading presenting symptom makes it hard to select the correct gene panel. In our case the variants in the gene, formerly associated to hereditary spastic paraparesis, resulted in cerebellar ataxia initially, so even an ataxia NGS gene panel would not detect those. Orv Hetil. 2018; 159(28): 1163\u20131169. <\/jats:p>","DOI":"10.1556\/650.2018.31049","type":"journal-article","created":{"date-parts":[[2018,7,8]],"date-time":"2018-07-08T08:49:56Z","timestamp":1531039796000},"page":"1163-1169","source":"Crossref","is-referenced-by-count":1,"title":["A teljesexom-szekven\u00e1l\u00e1s jelent\u0151s\u00e9ge a ritka                     neurol\u00f3giai betegs\u00e9gek diagnosztik\u00e1j\u00e1ban \u2013 saj\u00e1t tapasztalatok egy ataxi\u00e1s eset                     kapcs\u00e1n"],"prefix":"10.1556","volume":"159","author":[{"given":"P\u00e9ter","family":"Balicza","sequence":"first","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zolt\u00e1n","family":"Grosz","sequence":"additional","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e1ta","family":"Bencsik","sequence":"additional","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anett","family":"Ill\u00e9s","sequence":"additional","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik\u00f3","family":"G\u00e1l","sequence":"additional","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e1s","family":"G\u00e9zsi","sequence":"additional","affiliation":[{"name":"M\u00e9r\u00e9stechnika \u00e9s Inform\u00e1ci\u00f3s Rendszerek Tansz\u00e9k,                         Budapesti M\u0171szaki \u00e9s Gazdas\u00e1gtudom\u00e1nyi Egyetem, Villamosm\u00e9rn\u00f6ki \u00e9s Informatikai Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, T\u00f6m\u0151 u. 25\u201329., 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2018.31049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T17:48:26Z","timestamp":1550598506000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2018.31049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":0,"journal-issue":{"issue":"28","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1556\/650.2018.31049"],"URL":"https:\/\/doi.org\/10.1556\/650.2018.31049","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7]]}}}