Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.

doi:10.1186/s13195-022-01091-8

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Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.

Alzheimer's research & therapy - 11 Oct 2022

Katisko Kasper, Huber Nadine, Kokkola Tarja, Hartikainen Päivi, Krüger Johanna, Heikkinen Anna-Leena, Paananen Veera, Leinonen Ville, Korhonen Ville E, Helisalmi Seppo, Herukka Sanna-Kaisa, Cantoni Valentina, Gadola Yasmine, Archetti Silvana, Remes Anne M, Haapasalo Annakaisa, Borroni Barbara, Solje Eino

Abstract excerpt

BACKGROUND: Frontotemporal dementia (FTD) covers a spectrum of neurodegenerative disorders with various clinical and neuropathological subtypes. The two major pathological proteins accumulating in the brains of FTD patients, depending on their genetic background, are TDP-43 and tau. We aimed to evaluate whether total TDP-43 levels measured from the serum associate with the genotype or clinical phenotype of the...

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PMID: 36217158
DOI: 10.1186/s13195-022-01091-8
PMCID: PMC9552448

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