Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease

Abstract

Bi-allelic mutations in FBXO7 are classically associated with a complex phenotype, known as parkinsonian-pyramidal syndrome. We describe two brothers affected by typical early onset Parkinson's disease (EOPD), who carry novel compound heterozygous variants in FBXO7. Our report highlights that typical EOPD can be part of an expanding FBXO7-related phenotype.

Keywords: EOPD; FBXO7; Pathogenic variant; Typical early-onset Parkinson's disease.