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

Male Humans Parkinson Disease / genetics F-Box Proteins / genetics Phenotype Mutation / genetics Alleles Age of Onset
EOPD FBXO7 Pathogenic variant Typical early-onset Parkinson's disease

Journal

Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583

Informations de publication

Date de publication:
11 2022
Historique:
received: 26 08 2022
revised: 27 09 2022
accepted: 09 10 2022
pubmed: 25 10 2022
medline: 18 11 2022
entrez: 24 10 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.parkreldis.2022.10.014 PMID: 36274328
pubmed: 36274328
pii: S1353-8020(22)00334-0
doi: 10.1016/j.parkreldis.2022.10.014
pii:
doi:

Substances chimiques

F-Box Proteins 0
FBXO7 protein, human 0

Types de publication

Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

88-90

Informations de copyright

Copyright © 2022 Elsevier Ltd. All rights reserved.

Auteurs

Ignacio J Keller Sarmiento (IJ)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Mitra Afshari (M)

Division of Movement Disorders, Rush University Medical Center, and Biostatistical Analysis, Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.

Lisa Kinsley (L)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Vincenzo Silani (V)

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, 20122, Italy.

Rizwan S Akhtar (RS)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Tanya Simuni (T)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Steven J Lubbe (SJ)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Dimitri Krainc (D)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.

Niccolò E Mencacci (NE)

Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA. Electronic address: niccolo.mencacci@northwestern.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de transport › Protéines F-box › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Novel bi-allelic FBXO7 variants in a family...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Novel bi-allelic FBXO7 variants in a family...