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In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene.

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations