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Characterization of molecular biomarkers in cerebrospinal fluid and serum of E46K-SNCA mutation carriers.

Parkinsonism & related disorders - 1 Mar 2022

Murueta-Goyena Ane, Cipriani Raffaela, Carmona-Abellán Mar, Acera Marian, Ayo Naia, Del Pino Rocío, Tijero Beatriz, Fernández-Valle Tamara, Gabilondo Iñigo, Zallo Fátima, Matute Carlos, Sánchez-Pernaute Rosario, Khurana Vikram, Cavaliere Fabio, Capetillo-Zarate Estibaliz, Gómez-Esteban Juan Carlos

Abstract excerpt

INTRODUCTION: Blood and cerebrospinal fluid represent emerging candidate fluids for biomarker identification in Parkinson's disease (PD). METHODS: We studied 8 individuals carrying the E46K-SNCA mutation (3 PD dementia (PDD), 1 tremor-dominant PD, 2 young rigid-akinetic PD and 2 asymptomatic) and 8 age- and sex-matched healthy controls. We quantified the levels of total alpha-synuclein (a-syn), neurofilament...

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PMID: 35149357
DOI: 10.1016/j.parkreldis.2022.01.024

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