Journal of Movement Disorders

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

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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

Imaging Findings of Intracerebral Infection after Deep Brain Stimulation: Pediatric Case Series and Literature Review
Andrew Z. Yang, Alexandre Boutet, Vivek Pai, Michael J. Colditz, Artur Vetkas, Brendan Santyr, Nardin Samuel, Jurgen Germann, Sara Breitbart, Lior Elkam, Birgit Ertl‐Wagner, Alfonso Fasano, Andres M. Lozano, George M Ibrahim, Carolina Gorodetsky
Movement Disorders Clinical Practice.2025; 12(2): 242. CrossRef
Hallerworden – Spatz DISEASE. Clinical case
L. B. Novikova, K. M. Ziultsle, A. P. Akopian
Medical alphabet.2025; (33): 34. CrossRef
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
Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration
Jason L. Chan, Ashley E. Rawls, Joshua K. Wong, Penelope Hogarth, Justin D. Hilliard, Michael S. Okun
Tremor and Other Hyperkinetic Movements.2024;[Epub] CrossRef
Surgical treatment of movement disorders in neurometabolic conditions
Alonso Zea Vera, Andrea L. Gropman
Frontiers in Neurology.2023;[Epub] CrossRef

Case Report

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy: Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris; J Mov Disord. 2018;11(2):89-92. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.17082

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170 Download
13 Web of Science
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Abstract PDF Supplementary Material

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient’s disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.

Citations

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Biochimica et Biophysica Acta (BBA) - Bioenergetics.2025; 1866(1): 149517. CrossRef
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Lipids in Health and Disease.2024;[Epub] CrossRef
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Hye Eun Lee, Minkyo Jung, Kiju Choi, Jae Hyuck Jang, Su-Kyeong Hwang, Sehyun Chae, Jae-Hyeok Lee, Ji Young Mun
Free Radical Biology and Medicine.2024; 221: 273. CrossRef
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
Autophagy.2022; 18(7): 1715. CrossRef
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Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
Biomolecules.2022; 12(5): 714. CrossRef
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Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
Neurobiology of Disease.2022; 175: 105920. CrossRef
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
Kiwako Tsukida, Shin-ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
Brain Communications.2022;[Epub] CrossRef
Iron Chelation in Movement Disorders: Logical or Ironical
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; : 1. CrossRef
Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
Frontiers in Neurology.2021;[Epub] CrossRef
Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J Hayflick
Developmental Medicine & Child Neurology.2021; 63(12): 1402. CrossRef
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Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
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Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
Robert V.V. Spaull, Audrey K.S. Soo, Penelope Hogarth, Susan J. Hayflick, Manju A. Kurian
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