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Jin-Hee Im 1 Article
Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon
J Mov Disord. 2020;13(3):225-228.   Published online September 9, 2020
DOI: https://doi.org/10.14802/jmd.20026
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  • 4 Web of Science
  • 4 Crossref
AbstractAbstract PDF
F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism.

Citations

Citations to this article as recorded by  
  • Global prevalence and incidence of Young Onset Parkinson’s disease: A systematic review and meta-analysis
    Fardin Nabizadeh, Homa Seyedmirzaei, Nazanin Rafiei, Seyedeh Maryam Vafaei, Dorsa Shekouh, Ehsan Mehrtabar, Ehsan Mirzaaghazadeh, Zahra Mirzaasgari
    Journal of Clinical Neuroscience.2024; 125: 59.     CrossRef
  • Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
    Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q. McDonald, Veronika Chernuha, Orly Elpeleg, Massimo Zeviani, Roger A. Barker, Ronen Spiegel, Heike Laman
    The FEBS Journal.2024; 291(12): 2565.     CrossRef
  • Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects
    Jingbo Wang, Sabitha Joseph, Siv Vingill, Ekrem Dere, Lars Tatenhorst, Anja Ronnenberg, Paul Lingor, Christian Preisinger, Hannelore Ehrenreich, Jörg B. Schulz, Judith Stegmüller
    Journal of Neurochemistry.2023; 167(2): 296.     CrossRef
  • Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
    Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
    Journal of Movement Disorders.2022; 15(3): 269.     CrossRef

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