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Letter to the editor
Joubert Syndrome Presenting with Levodopa Responsive Parkinsonism
Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee
Received December 29, 2023  Accepted March 27, 2024  Published online March 27, 2024  
DOI: https://doi.org/10.14802/jmd.23275    [Accepted]
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  • 9 Download
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Brief communication
Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2021;14(3):231-235.   Published online September 16, 2021
DOI: https://doi.org/10.14802/jmd.21066
  • 3,937 View
  • 115 Download
  • 5 Web of Science
  • 3 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Methods
This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.
Results
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Conclusion
Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

Citations

Citations to this article as recorded by  
  • Clinical and genetic characteristics of 36 children with Joubert syndrome
    Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi
    Frontiers in Pediatrics.2023;[Epub]     CrossRef
  • CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
    Reza Shervin Badv, Mojdeh Mahdiannasser, Maryam Rasoulinezhad, Laleh Habibi, Ali Rashidi-Nezhad
    Molecular Biology Reports.2022; 49(8): 7231.     CrossRef
  • Congenital Brain Malformations: An Integrated Diagnostic Approach
    Bimal P. Chaudhari, Mai-Lan Ho
    Seminars in Pediatric Neurology.2022; 42: 100973.     CrossRef

JMD : Journal of Movement Disorders