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

Parkinsonism & related disorders - 1 Aug 2020

Gatto Emilia M, Rojas Galeno J, Nemirovsky Sergio I, Da Prat Gustavo, Persi Gabriel, Cesarini Martin, Etcheverry Jose L, Rojas Natalia Gonzalez, Parisi Virginia, Cordoba Marta, Sevlever Gustavo, Allegri Ricardo F, Turjanski Adrian G

Abstract excerpt

INTRODUCTION: 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). OBJECTIVE: to report a new PSEN1 mutation characterized by...

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PMID: 32590294
DOI: 10.1016/j.parkreldis.2020.06.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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