Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.

doi:10.1136/jnnp-2013-305972

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Article

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2014

Suárez-Calvet Marc, Dols-Icardo Oriol, Lladó Albert, Sánchez-Valle Raquel, Hernández Isabel, Amer Guillermo, Antón-Aguirre Sofía, Alcolea Daniel, Fortea Juan, Ferrer Isidre, van der Zee Julie, Dillen Lubina, Van Broeckhoven Christine, Molinuevo José Luís, Blesa Rafael, Clarimón Jordi, Lleó Alberto

Abstract excerpt

OBJECTIVES: About a half of patients with frontotemporal dementia (FTD) has deposition of phosphorylated TDP-43 protein (pTDP-43) in the brain. We studied pTDP-43 and total TDP-43 levels in plasma and cerebrospinal fluid (CSF) in healthy controls and patients with FTD, including those carrying a repeat expansion in the C9orf72 gene or a mutation in GRN. METHODS: We included 88 plasma samples of 10 C9orf72...

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PMID: 24309270
DOI: 10.1136/jnnp-2013-305972

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