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

  • Ignacio J. Keller Sarmiento
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Mitra Afshari
    Affiliations
    Division of Movement Disorders, Rush University Medical Center, and Biostatistical Analysis, Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA
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  • Lisa Kinsley
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Vincenzo Silani
    Affiliations
    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
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  • Rizwan S. Akhtar
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Tanya Simuni
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Steven J. Lubbe
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Dimitri Krainc
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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  • Niccolò E. Mencacci
    Correspondence
    Corresponding author. Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, 303 East Chicago Avenue, Ward 12-373, Chicago, IL, 60611, USA.
    Affiliations
    Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
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      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

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