ALS-FTD Complex Disorder due to C9ORF72 Gene Mutation: Description of First Polish Family

作者：Siuda Joanna; Lewicka Tatiana; Bujak Malgorzata; Opala Grzegorz; Golenia Aleksandra; Slowik Agnieszka; van Blitterswijk Marka; Baker Matt; Ertekin Taner Nilufer; Wszolek Zbigniew K^*; Rademakers Rosa

来源：European Neurology, 2014, 72(1-2): 64-71.

DOI：10.1159/000362267

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

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.

• 出版日期2014