{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:31:16Z","timestamp":1745469076858,"version":"3.40.4"},"reference-count":31,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2014]]},"abstract":"<b><i>Background:<\/i><\/b> Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a <i>C9ORF72 <\/i>repeat expansion. <b><i>Methods:<\/i><\/b> We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for <i>C9ORF72 <\/i>expansions. Family members were evaluated clinically, by history, and by chart review. <b><i>Results:<\/i><\/b> Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a <i>C9ORF72 <\/i>expansion; 4 of these individuals remain clinically unaffected. <b><i>Conclusion:<\/i><\/b> Our report reveals that the hexanucleotide repeat expansion of <i>C9ORF72<\/i>, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.<\/jats:p>","DOI":"10.1159\/000362267","type":"journal-article","created":{"date-parts":[[2014,6,2]],"date-time":"2014-06-02T09:59:14Z","timestamp":1401703154000},"page":"64-71","source":"Crossref","is-referenced-by-count":1,"title":["ALS-FTD Complex Disorder due to <b><i>C9ORF72<\/i><\/b> Gene Mutation: Description of First Polish 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