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Jongkyu Park 2 Articles
The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
Jong Hyeon Ahn, Ah Reum Kim, Nayoung K. D. Kim, Woong-Yang Park, Ji Sun Kim, Minkyeong Kim, Jongkyu Park, Jung-Il Lee, Jin Whan Cho, Kyung Rae Cho, Jinyoung Youn
J Mov Disord. 2019;12(2):120-124.   Published online May 30, 2019
DOI: https://doi.org/10.14802/jmd.19006
  • 6,268 View
  • 141 Download
  • 13 Web of Science
  • 13 Crossref
AbstractAbstract PDFSupplementary Material
Objective
The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation.
Methods
We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study.
Results
Patients with the GNAL mutation and those with DYT1 had higher early responder rates (GNAL, 5/5, 100%; DYT1, 7/7, 100%) than did patients with DYT6 (p = 0.047). The responder rates at late follow-up did not differ statistically among the three groups (p = 0.278). The decrease in the dystonia motor scale score in the GNAL group was 46.9% at early follow-up and 63.4% at late follow-up.
Conclusion
GPi-DBS would be an effective treatment option for dystonia patients with the GNAL mutation who are resistant to medication or botulinum toxin treatment.

Citations

Citations to this article as recorded by  
  • 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
  • Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations
    Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi, Miryam Carecchio, Sandra D'Alfonso, Lucia Corrado
    Movement Disorders Clinical Practice.2024;[Epub]     CrossRef
  • A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
    Luigi Michele Romito, Fabio Paio, Nico Golfrè Andreasi, Celeste Panteghini, Sara Rinaldo, Ahmet Kaymak, Alberto Mazzoni, Fabiana Colucci, Vincenzo Levi, Giuseppe Messina, Barbara Garavaglia, Roberto Eleopra
    Parkinsonism & Related Disorders.2023; 115: 105833.     CrossRef
  • Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
    Valentino Rački, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić
    Frontiers in Neuroscience.2023;[Epub]     CrossRef
  • Isolated dystonia: clinical and genetic updates
    Aloysius Domingo, Rachita Yadav, Laurie J. Ozelius
    Journal of Neural Transmission.2021; 128(4): 405.     CrossRef
  • Abnormal cerebellar function and tremor in a mouse model for non‐manifesting partially penetrant dystonia type 6
    Meike E. van der Heijden, Dominic J. Kizek, Ross Perez, Elena K. Ruff, Michelle E. Ehrlich, Roy V. Sillitoe
    The Journal of Physiology.2021; 599(7): 2037.     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
  • Arching deep brain stimulation in dystonia types
    Han-Joon Kim, Beomseok Jeon
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef
  • The Efficacy and Predictors of Using GPi-DBS to Treat Early-Onset Dystonia: An Individual Patient Analysis
    Wenxiu Chen, Houyou Fan, Guohui Lu, Fushun Wang
    Neural Plasticity.2021; 2021: 1.     CrossRef
  • Deep brain stimulation in dystonia: State of art and future directions
    A. Macerollo, V. Sajin, M. Bonello, D. Barghava, S. H Alusi, P. R Eldridge, J. Osman-Farah
    Journal of Neuroscience Methods.2020; 340: 108750.     CrossRef
  • Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
    Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn
    Journal of Movement Disorders.2020; 13(2): 154.     CrossRef
  • Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation
    Minkyeong Kim, Ah Reum Kim, Jongkyu Park, Ji Sun Kim, Jong Hyeon Ahn, Woong-Yang Park, Nayoung K.D. Kim, Chung Lee, Nam-Soon Kim, Jin Whan Cho, Jinyoung Youn
    Clinical Neurology and Neurosurgery.2020; 199: 106267.     CrossRef
  • Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome
    David Crosiers, Bettina Blaumeiser, Gert Van Goethem
    Movement Disorders Clinical Practice.2019; 6(8): 731.     CrossRef
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee
J Mov Disord. 2016;9(1):20-27.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15058
  • 21,607 View
  • 227 Download
  • 20 Web of Science
  • 16 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods
We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results
Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions
We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

Citations

Citations to this article as recorded by  
  • Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
    Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
    Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
    Medicine.2023; 102(43): e34853.     CrossRef
  • Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
    Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
    Orphanet Journal of Rare Diseases.2022;[Epub]     CrossRef
  • 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
    Journal of Movement Disorders.2022; 15(3): 241.     CrossRef
  • Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
    Luz María González Huerta, Sorina Gómez González, Jaime Toral López
    Psychiatric Genetics.2021; 31(3): 95.     CrossRef
  • Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration
    Nivedita Thakur, Thomas Klopstock, Suzanne Jackowski, Enej Kuscer, Fernando Tricta, Aleksandar Videnovic, Hyder A. Jinnah
    Movement Disorders.2021; 36(9): 2005.     CrossRef
  • Atypical Pantothenate Kinase-Associated Neurodegeneration with variable phenotypes in an Egyptian family
    Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama
    Heliyon.2021; : e07469.     CrossRef
  • Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
    Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
    Movement Disorders Clinical Practice.2020;[Epub]     CrossRef
  • Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
    Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
    Orphanet Journal of Rare Diseases.2019;[Epub]     CrossRef
  • Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
    Jong Kyu Park, Jinyoung Youn, Jin Whan Cho
    Precision and Future Medicine.2019; 3(3): 135.     CrossRef
  • On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
    C. Tello, A. Darling, V. Lupo, B. Pérez‐Dueñas, C. Espinós
    Clinical Genetics.2018; 93(4): 731.     CrossRef
  • Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase–Associated Neurodegeneration
    J.-H. Lee, A. Gregory, P. Hogarth, C. Rogers, S.J. Hayflick
    American Journal of Neuroradiology.2018; 39(3): 583.     CrossRef
  • Parkinson’s Disease and Metal Storage Disorders: A Systematic Review
    Edward Botsford, Jayan George, Ellen Buckley
    Brain Sciences.2018; 8(11): 194.     CrossRef
  • Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature
    S. Mahoui, A. Benhaddadi, W. Ameur El Khedoud, M. Abada Bendib, M. Chaouch
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  • Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
    Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera‐Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pie
    Movement Disorders.2017; 32(11): 1620.     CrossRef
  • Missions of <italic>Journal of Movement Disorders</italic>
    Yun Joong Kim
    Journal of Movement Disorders.2016; 9(1): 1.     CrossRef

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