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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.

ALS-FTD Complex Disorder due to <b><i>C9ORF72</i></b> Gene Mutation: Description of First Polish Family