ALS-FTD complex disorder due to C9ORF72 gene mutation: Description of first polish family

Joanna Siuda, Tatiana Lewicka, Malgorzata Bujak, Grzegorz Opala, Aleksandra Golenia, Agnieszka Slowik, Marka Van Blitterswijk, Matt Baker, Nilufer Ertekin-Taner, Zbigniew K. Wszolek, Rosa Rademakers

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)64-71
Number of pages8
JournalEuropean Neurology
Issue number1-2
StatePublished - Jul 2014


  • ALS-FTD complex disorder
  • C9ORF72 gene mutation
  • Familial ALS-FTD
  • Phenotype

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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