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

Ignacio J. Keller Sarmiento, Mitra Afshari, Lisa Kinsley, Vincenzo Silani, Rizwan S. Akhtar, Tanya Simuni, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci*

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

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.

Original languageEnglish (US)
Pages (from-to)88-90
Number of pages3
JournalParkinsonism and Related Disorders
Volume104
DOIs
StatePublished - Nov 2022

Keywords

  • EOPD
  • FBXO7
  • Pathogenic variant
  • Typical early-onset Parkinson's disease

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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