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JMD : Journal of Movement Disorders

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Original Article
Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
J Mov Disord. 2022;15(3):241-248.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22002
  • 733 View
  • 62 Download
AbstractAbstract PDFSupplementary Material
Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.
Letter to the editor
An Autopsy-Proven Case of Lewy Body Disease Presenting with Severe Dysphagia
Sungyang Jo, Soo Jeong Nam, Kye Won Park, Jae-Hong Lee, Chong Sik Lee
J Mov Disord. 2021;14(3):242-244.   Published online March 15, 2021
DOI: https://doi.org/10.14802/jmd.20039
  • 3,721 View
  • 55 Download
  • 1 Citations
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Porphyrin-Based Conjugated Microporous Polymers for Highly Efficient Adsorption of Metal Ions
    Qi-Meige Hasi, Zhi-Chao Han, Yu-Ping Guo, Jia-Le Yu, Chao-Hu Xiao, Yu-Han Zhang, Li-Hua Chen
    Langmuir.2022; 38(31): 9507.     CrossRef
Original Article
Therapeutic Effect of Levodopa/Carbidopa/Entacapone on Sleep Disturbance in Patients with Parkinson’s Disease
Kye Won Park, Sungyang Jo, Seung Hyun Lee, Yun Su Hwang, Dagyo Lee, Ho-Sung Ryu, Sun Ju Chung
J Mov Disord. 2020;13(3):205-212.   Published online September 9, 2020
DOI: https://doi.org/10.14802/jmd.20055
  • 5,279 View
  • 245 Download
  • 2 Citations
AbstractAbstract PDF
Objective
To investigate the efficacy of levodopa/carbidopa/entacapone (LCE) at bedtime for treating sleep disturbance in patients with Parkinson’s disease (PD) with motor fluctuations.
Methods
Participants included 128 PD patients with motor fluctuations. All patients were assessed for motor, nonmotor, and sleep-specific symptoms using the United Parkinson’s Disease Rating Scale (UPDRS), the Korean version of the Nonmotor Symptom Scale, the Parkinson’s Disease Sleep Scale (PDSS), the Epworth Sleepiness Scale, and the Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire (RBDSQ). We compared the baseline characteristics of patients with sleep disturbance (PDSS score < 120) and those without sleep disturbance (PDSS score ≥ 120). Thirty-nine patients with sleep disturbance who agreed to take LCE at bedtime completed 3-month follow-ups. We analyzed changes in the scores of motor, nonmotor, and sleep symptom scales over the 3 months.
Results
PD patients with sleep disturbance were at more advanced disease stages and had more severe motor, nonmotor, and sleep symptoms than those without sleep disturbance. Patients who took LCE at night showed improvements in motor (UPDRS part III, p = 0.007) and sleep symptoms (total PDSS, p < 0.001). Sleep features that benefitted from LCE included not only nocturnal motor components but also insomnia (PDSS items 2 and 3, p = 0.005 and p < 0.001) and rapid eye movement behavior disorder (PDSS item 6, p = 0.002; and RBDSQ, p < 0.001).
Conclusion
The use of LCE at bedtime may be a useful treatment for sleep disturbance in advanced PD patients with motor fluctuations.

Citations

Citations to this article as recorded by  
  • The Home-Based Sleep Laboratory
    Yael Hanein, Anat Mirelman, Anat Mirelman, E. Ray Dorsey, Patrik Brundin, Bastiaan R. Bloem
    Journal of Parkinson's Disease.2021; 11(s1): S71.     CrossRef
  • Shudi Pingchan Decoction combined with repetitive transcranial magnetic stimulation in the treatment of Parkinson’s disease with sleep disorders
    Qing Ye, Xiqun Chen, Yuqing Hu, Jie Zhou, Chen Gao, Zhenguo Liu
    Traditional Medicine and Modern Medicine.2020; 03(02): 85.     CrossRef
Letter to the editor
Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case
Chaewon Lee, Kye Won Park, Nari Choi, Ho-Sung Ryu, Sun Ju Chung
J Mov Disord. 2019;12(3):184-186.   Published online July 17, 2019
DOI: https://doi.org/10.14802/jmd.18060
  • 4,267 View
  • 106 Download
  • 1 Citations
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  • Brain 18F-FDG and 18F-Flumetamol PET Imaging of Fragile X-Associated Tremor Ataxia Syndrome
    Ruggero Bacchin, Matteo Salgarello, Michela Trentin, Giampietro Zanette, Stefano Tamburin
    Clinical Nuclear Medicine.2021; 46(7): e344.     CrossRef
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
  • 5,485 View
  • 127 Download
  • 4 Citations
AbstractAbstract PDFSupplementary Material
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

JMD : Journal of Movement Disorders