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.
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease / I.J. Keller Sarmiento, M. Afshari, L. Kinsley, V. Silani, R.S. Akhtar, T. Simuni, S.J. Lubbe, D. Krainc, N.E. Mencacci. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1873-5126. - 104:(2022 Nov), pp. 88-90. [10.1016/j.parkreldis.2022.10.014]
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease
V. Silani;
2022
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.
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