ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

doi:10.1136/jnnp-2012-302219

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Article

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2012

Chiò Adriano, Restagno Gabriella, Brunetti Maura, Ossola Irene, Calvo Andrea, Canosa Antonio, Moglia Cristina, Floris Gianluca, Tacconi Paolo, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Majounie Elisa, Renton Alan E, Abramzon Yvegeniya, Pugliatti Maura, Sotgiu Maria Alessandra, Traynor Bryan J, Borghero Giuseppe

Abstract excerpt

BACKGROUND: 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. OBJECTIVE: To describe the co-presence of two genetic mutations in two Sardinian ALS patients. METHODS: We identified two index ALS cases carrying both the p.A382T missense mutation of...

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PMID: 22550220
DOI: 10.1136/jnnp-2012-302219
PMCID: PMC4568835

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TARDBP

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