title: ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Silesian Medical University, Katowice, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Siuda
authors.forename: Tatiana
authors.initials: T
authors.lastname: Lewicka
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Bujak
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Opala
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Golenia
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Slowik
authors.forename: Marka
authors.initials: M
authors.lastname: van Blitterswijk
authors.forename: Matt
authors.initials: M
authors.lastname: Baker
authors.forename: Nilufer
authors.initials: N
authors.lastname: Ertekin-Taner
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D000073885:C9orf72 Protein; D004252:DNA Mutational Analysis; D042622:DNA Repeat Expansion; D005190:Family; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011044:Poland; D011506:Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins