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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo Kim, Seungbok Lee, Jae So Cho, Jihoon G Yoon, Sheehyun Kim, Man Jin Kim, Jong Hee Chae, Manho Kim, Jangsup Moon
J Mov Disord. 2025;18(1):93-95.   Published online July 9, 2024
DOI: https://doi.org/10.14802/jmd.24054
  • 1,113 View
  • 103 Download
PDFSupplementary Material
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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
Hyoshin Son, Jihoon G. Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim
J Mov Disord. 2023;16(1):110-113.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22150
  • 2,336 View
  • 61 Download
  • 2 Web of Science
  • 2 Crossref
PDFSupplementary Material

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Citations to this article as recorded by  
  • Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
    Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
    npj Genomic Medicine.2024;[Epub]     CrossRef
  • Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia
    Haoran Huang, Vikram G. Shakkottai
    Life.2023; 13(6): 1350.     CrossRef
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A Case of AOA2 With Compound Heterozygous SETX Mutations
Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim
J Mov Disord. 2022;15(2):178-180.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21139
  • 3,483 View
  • 243 Download
  • 1 Web of Science
  • 1 Crossref
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Citations to this article as recorded by  
  • Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
    Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
    npj Genomic Medicine.2024;[Epub]     CrossRef
Case Report
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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
  • 5,990 View
  • 121 Download
  • 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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