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 language | English (US) |
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Pages (from-to) | 88-90 |
Number of pages | 3 |
Journal | Parkinsonism and Related Disorders |
Volume | 104 |
DOIs | |
State | Published - Nov 2022 |
Funding
N.E.M. is funded by a Parkinson's Foundation grant. I.J.K.S. is supported by the Align Sience Across Parkinson's (ASAP) Global Parkinson's Genetics Program (GP2). N.E.M. is funded by a Parkinson's Foundation grant.The work of the PDMDC Biorepository is supported by a generous gift from the Malkin Family.V.S. received compensation for consulting services and/or speaking activities from AveXis, Cytokinetics, Italfarmaco, Liquidweb S.r.l., Novartis Pharma AG and Zambon. He receives or has received research supports form the Italian Ministry of Health, AriSLA, and E-Rare Joint Transnational Call. He is in the Editorial Board of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, European Neurology, American Journal of Neurodegenerative Diseases, Frontiers in Neurology.
Keywords
- EOPD
- FBXO7
- Pathogenic variant
- Typical early-onset Parkinson's disease
ASJC Scopus subject areas
- Neurology
- Geriatrics and Gerontology
- Clinical Neurology