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Title
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ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family
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Author
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Abstract
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| Background: 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 C9ORF72 repeat expansion. Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. Results: 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 C9ORF72 expansion; 4 of these individuals remain clinically unaffected. Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, 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. (C) 2014 S. Karger AG, Basel |
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Language
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English
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Source (journal)
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European neurology. - Basel
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Publication
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Basel
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2014
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ISSN
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0014-3022
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DOI
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10.1159/000362267
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Volume/pages
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72
:1-2
(2014)
, p. 64-71
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ISI
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000339315300011
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Full text (Publisher's DOI)
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