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

2,914 View
172 Download
2 Web of Science
2 Crossref

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
Surgical treatment of movement disorders in neurometabolic conditions
Alonso Zea Vera, Andrea L. Gropman
Frontiers in Neurology.2023;[Epub] CrossRef

Letter to the editor

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

5,303 View
120 Download
8 Web of Science
9 Crossref

PDF Supplementary 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

First
Prev
Page of 1
Next
Last

Search