Journal of Movement Disorders

Case Report

Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review: Kye Won Park, Ho-Sung Ryu, Juyeon Kim, Sun Ju Chung; J Mov Disord. 2017;10(3):149-153. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17050

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Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

Citations

Citations to this article as recorded by

Glial Connexins and Pannexins in the Healthy and Diseased Brain
Christian Giaume, Christian C. Naus, Juan C. Sáez, Luc Leybaert
Physiological Reviews.2021; 101(1): 93. CrossRef
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Virang Kumar, Natario L. Couser, Arti Pandya
Case Reports in Ophthalmological Medicine.2020; 2020: 1. CrossRef
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding
Ophthalmic Genetics.2019; 40(1): 54. CrossRef
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
American Journal of Neuroradiology.2019; 40(5): 903. CrossRef

Original Article

Comparison of Pallidal and Subthalamic Deep Brain Stimulation in Parkinson’s Disease: Therapeutic and Adverse Effects: Ho-Sung Ryu, Mi-Sun Kim, Sooyeoun You, Mi-Jung Kim, Young Jin Kim, Juyeon Kim, Kiju Kim, Sun Ju Chung; J Mov Disord. 2017;10(2):80-86. Published online May 8, 2017; DOI: https://doi.org/10.14802/jmd.17001

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Abstract PDF Supplementary Material

Objective
To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson’s disease (PD).
Methods
We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups.
Results
At 12 months, the mean changes in the UPDRS total and part I–IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697).
Conclusion
The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.

Citations

Citations to this article as recorded by

Long-term motor outcomes of deep brain stimulation of the globus pallidus interna in Parkinson's disease patients: Five-year follow-up
Yun Su Hwang, Sungyang Jo, Seung Hyun Lee, Nayoung Kim, Mi-Sun Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of the Neurological Sciences.2023; 444: 120484. CrossRef
The Role of Microelectrode Recording in Deep Brain Stimulation Surgery for Parkinson’s Disease: A Systematic Review and Meta-Analysis
R. Saman Vinke, Martin Geerlings, Ashok K. Selvaraj, Dejan Georgiev, Bastiaan R. Bloem, Rianne A.J. Esselink, Ronald H.M.A. Bartels
Journal of Parkinson's Disease.2022; 12(7): 2059. CrossRef
Motor Thalamic Deep Brain Stimulation Alters Cortical Activity and Shows Therapeutic Utility for Treatment of Parkinson’s Disease Symptoms in a Rat Model
Heidi R. Tucker, Emily Mahoney, Kainat Akhtar, Tzu-Jen Kao, Gianna Mamone, Saisree Mikkilineni, Maya Ravi, Hanel Watkins, Danielle-Lee Terrelonge, Caryn Martin, Kristen Unger, Gabrielle Kim, Kyra Fiber, Megan Gupta, Jonathan Indajang, Eliyahu M. Kochman,
Neuroscience.2021; 460: 88. CrossRef
Current Knowledge on the Background, Pathophysiology and Treatment of Levodopa-Induced Dyskinesia—Literature Review
Michał Hutny, Jagoda Hofman, Aleksandra Klimkowicz-Mrowiec, Agnieszka Gorzkowska
Journal of Clinical Medicine.2021; 10(19): 4377. CrossRef
Estimating Risk for Future Intracranial, Fully Implanted, Modular Neuroprosthetic Systems: A Systematic Review of Hardware Complications in Clinical Deep Brain Stimulation and Experimental Human Intracortical Arrays
Autumn J. Bullard, Brianna C. Hutchison, Jiseon Lee, Cynthia A. Chestek, Parag G. Patil
Neuromodulation: Technology at the Neural Interface.2020; 23(4): 411. CrossRef
Long-term Effects of Bilateral Subthalamic Deep Brain Stimulation on Postural Instability and Gait Difficulty in Patients with Parkinson’s Disease
Hae-Won Shin, Mi Sun Kim, Sung Reul Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of Movement Disorders.2020; 13(2): 127. CrossRef
Treatment strategies in advanced Parkinson's disease: Review of the literature
Yıldız Değirmenci
Cumhuriyet Medical Journal.2017; 39(3): 509. CrossRef

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