Journal of Movement Disorders

Case Report

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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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.

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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;[Epub] 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

Letter to the editor

Brainstem-Predominant Lewy-Related Pathology in a Patient with Parkinson’s Disease without Dementia: Ji-Hyun Choi, Sung-Hye Park, Sung Sup Park, Beomseok Jeon; J Mov Disord. 2020;13(1):74-76. Published online December 19, 2019; DOI: https://doi.org/10.14802/jmd.19059

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Morphological differences between the two major subtypes of multiple system atrophy with cognitive impairment
Kurt A. Jellinger
Parkinsonism & Related Disorders.2023; 107: 105273. CrossRef
Neuropathological findings in multiple system atrophy with cognitive impairment
Kurt A. Jellinger
Journal of Neural Transmission.2020; 127(7): 1031. CrossRef

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