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Case Report
- Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
- Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
- J Mov Disord. 2022;15(3):269-272. Published online July 26, 2022
- DOI: https://doi.org/10.14802/jmd.22006
- 6,197 View
- 112 Download
- 8 Web of Science
- 8 Crossref
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Abstract
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Supplementary Material - Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability. The bilateral uptake by dopamine transporters was nearly abolished, as determined by N-(3-[18F]fluoropropyl)- 2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography (18F-FP-CIT PET). Next-generation sequencing revealed a heterozygous c.1066_1069delTCTG (p.Ser356ArgfsTer56) frameshift variant and a heterozygous c.80G>A (p.Arg27His) missense variant of the FBXO7 gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of FBXO7 mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.
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Citations
Citations to this article as recorded by
- 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 - 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 - Case Report: Neonatal-onset parkinsonian-pyramidal syndrome caused by novel compound heterozygous FBXO7 variants
Weicong Pu, Zelei Liu, Yanyan Cao, Jiancheng Jiao, Min Sun, Li Ma
Frontiers in Pediatrics.2026;[Epub] CrossRef - FBXO7 Pathogenic Variants in Early‐Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature
Erdi Şahin, Bedia Samanci, Gül Yalçın Çakmaklı, Ebba Lohmann, Gamze Güven, Ebru Erzurumluoğlu Gökalp, Ayşegül Gündüz, Ayşe Nazlı Başak, Sibel Ertan, Bülent Elibol, Başar Bilgiç, Haşmet Hanağası
Movement Disorders Clinical Practice.2025; 12(11): 1972. CrossRef - Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
Changhwan Sung, Seung Jun Oh, Jae Seung Kim
Nuclear Medicine and Molecular Imaging.2024; 58(4): 185. 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 - The characteristics of FBXO7 and its role in human diseases
Yeling Zhong, Jinyun Li, Meng Ye, Xiaofeng Jin
Gene.2023; 851: 146972. CrossRef
- rAAV Fbxo7 gene therapy rescues the progressive nigrostriatal pathology in a mouse model of juvenile parkinsonism
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