A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism

Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD).

Source: Parkinsonism and Related Disorders - June 15, 2020 Category: Neurology Authors: Emilia M. Gatto, Galeno J. Rojas, Sergio I. Nemirovsky, Gustavo Da Prat, Gabriel Persi, Martin Cessarini, Jose L. Etcheverry, Natalia Gonzalez Rojas, Virginia Parisi, Marta Cordoba, Gustavo Sevlever, Ricardo F. Allegri, Adrian G. Turjansky Tags: Short communication Source Type: research