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Jong-Hee Chae 2 Articles
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
  • 3,259 View
  • 178 Download
  • 3 Web of Science
  • 4 Crossref
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.

Citations

Citations to this article as recorded by  
  • Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review
    Lindsey M. Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J. Lizarraga, Angela L. Hewitt, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky
    Annals of Neurology.2024; 95(1): 156.     CrossRef
  • Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia
    Luigi M. Romito, Fabiana Colucci, Giovanna Zorzi, Barbara Garavaglia, Ahmet Kaymak, Alberto Mazzoni, Celeste Panteghini, Nico Golfrè Andreasi, Sara Rinaldo, Vincenzo Levi, Miryam Carecchio, Roberto Eleopra
    Parkinsonism & Related Disorders.2024; 123: 106977.     CrossRef
  • Case of Hallervorden–Spatz Syndrome: A Tale of Twin Sisters
    Naveen Reddy, Jitender Sharma, Anmol Sharma
    Neurology India.2024; 72(2): 411.     CrossRef
  • Surgical treatment of movement disorders in neurometabolic conditions
    Alonso Zea Vera, Andrea L. Gropman
    Frontiers in Neurology.2023;[Epub]     CrossRef
Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation
Dallah Yoo, Han-Joon Kim, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
J Mov Disord. 2019;12(3):190-191.   Published online July 17, 2019
DOI: https://doi.org/10.14802/jmd.19016
  • 5,498 View
  • 122 Download
  • 9 Web of Science
  • 9 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • The Clinical Spectrum of ANO3—Report of a New Family and Literature Review
    Marco Percetti, Michela Zini, Paola Soliveri, Filippo Cogiamanian, Mariarosa Ferrara, Eva Orunesu, Alessandra Ranghetti, Carlo Ferrarese, Gianni Pezzoli, Barbara Garavaglia, Ioannis Ugo Isaias, Giorgio Sacilotto
    Movement Disorders Clinical Practice.2024; 11(3): 289.     CrossRef
  • The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
    Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
    Journal of the Neurological Sciences.2024; 459: 122970.     CrossRef
  • A novel ANO3 variant in two siblings with different phenotypes
    Marcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, Maria Cecilia D'Asdia, Federica Consoli, Alessandro De Luca
    Parkinsonism & Related Disorders.2023; 111: 105413.     CrossRef
  • DBS-Evoked Pallidal Activity Correlates with Clinical Improvement in a Patient with ANO3-Related Dystonia
    Aditya Boddu, Adam Bashir, Mohammad Awad, Barton Guthrie, Harrison Walker
    SSRN Electronic Journal.2023;[Epub]     CrossRef
  • Deep Brain Stimulation in Dystonia: Disentangling Heterogeneity
    Alberto Albanese
    Movement Disorders Clinical Practice.2021; 8(1): 6.     CrossRef
  • Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
    Stephen Tisch, Kishore Raj Kumar
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • The expanding clinical and genetic spectrum of ANO3 dystonia
    Li-Ting Jiang, Li-Xi Li, Ying Liu, Xiao-Long Zhang, You-Gui Pan, Lin Wang, Xin-Hua Wan, Ling-Jing Jin
    Neuroscience Letters.2021; 746: 135590.     CrossRef
  • Huntington disease-like phenotype in a patient with ANO3 mutation
    Shahedah Koya Kutty, Eoin Mulroy, Francesca Magrinelli, Giulia Di Lazzaro, Anna Latorre, Kailash P. Bhatia
    Parkinsonism & Related Disorders.2021; 90: 120.     CrossRef
  • Arching deep brain stimulation in dystonia types
    Han-Joon Kim, Beomseok Jeon
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef

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