Journal of Movement Disorders

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

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Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review
Meiyuan Chen, Xiaochuan Wang, Xiaojun Ye, Hongli Fang, Zhihao Wu, Jing Yang, Wenjie Wu, Jinghua Wang
The Cerebellum.2025;[Epub] CrossRef

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

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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

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

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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

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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rAAV Fbxo7 gene therapy rescues the progressive nigrostriatal pathology in a mouse model of juvenile parkinsonism
Sara Al Rawi, Pamela Tyers, Roger A. Barker, Heike Laman
Acta Neuropathologica Communications.2026;[Epub] CrossRef
Pathways and Genetic Determinants of Impulse Control Disorders in Parkinson’s Disease
Kallirhoe Kalinderi, Vasileios Papaliagkas, Oraiozili Goula, Liana Fidani, Maria Chatzidimitriou
Life.2026; 16(6): 897. CrossRef
FBXO7- associated parkinsonism: clinical, genetic, and radiological insights from a case report and literature review
Rohan R. Mahale, Pramod Khanda, Subhajit Roy
Journal of Neural Transmission.2026;[Epub] CrossRef
Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review
Stefania Zampatti, Claudia Strafella, Rosa Campopiano, Cristina Peconi, Juliette Farro, Francesca Chiara De Pinto, Roberta Fantozzi, Nicola Modugno, Stefano Gambardella, Carlo Caltagirone, Emiliano Giardina
Genes.2026; 17(7): 764. CrossRef
Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson’s Disease
Martina Lucchesi, Letizia Biso, Marco Bonaso, Biancamaria Longoni, Bianca Buchignani, Roberta Battini, Filippo Maria Santorelli, Stefano Doccini, Marco Scarselli
International Journal of Molecular Sciences.2025; 26(9): 4451. CrossRef
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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