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A Novel α‐Synuclein K58N Missense Variant in a Patient with Parkinson's Disease

4 Sept 2025

Abstract excerpt

BACKGROUND: Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15% of cases. Multiplications and point mutations in SNCA gene, encoding α-synuclein (aSyn), are linked to rare familial forms of PD. OBJECTIVE: Our goal was to assess the clinical presentation and the biological effects of a novel K58N aSyn mutation identified in a patient with PD. METHODS: We describe the...

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PMID: 40905240
DOI: 10.1002/mds.70030

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