Mar Carmona-Abellan, Inigo Gabilondo, Ane Murueta-Goyena, Vikram Khurana, Beatriz Tijero, María Rosario Luquin, Marian Acera, Rocío Del Pino, Jesús Gardeazabal, Ivan Martínez-Valbuena, Rosario Sanchez-Pernaute, Juan Carlos Gómez-Esteban
BACKGROUND AND OBJECTIVE: In 2004 we described the E46K mutation in alpha-synuclein gene (E46K-SNCA), a rare point mutation causing an aggressive Lewy body disease with early prominent non-motor features and small fiber denervation of myocardium. Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls...
June 5, 2019: Parkinsonism & related Disorders