- The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
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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
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J Mov Disord. 2019;12(2):120-124. Published online May 30, 2019
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DOI: https://doi.org/10.14802/jmd.19006
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Abstract
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- 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.
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Citations
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- 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; 11(8): 1047. CrossRef - BDNF-Regulated Modulation of Striatal Circuits and Implications for Parkinson’s Disease and Dystonia
Daniel Wolf, Maurilyn Ayon-Olivas, Michael Sendtner Biomedicines.2024; 12(8): 1761. 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
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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
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- Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
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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
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J Mov Disord. 2016;9(1):20-27. Published online January 25, 2016
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DOI: https://doi.org/10.14802/jmd.15058
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22,606
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235
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22
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Abstract
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- 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.
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Citations
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Arti Saini, Inder Singh, Mukesh Kumar, Divya Madathiparambil Radhakrishnan, Ayush Agarwal, Divyani Garg, Arunmozhimaran Elavarasi, Rahul Singh, Vivek Chouhan, Sandeep, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Ajay Garg, Ne Movement Disorders Clinical Practice.2025; 12(5): 594. CrossRef - Very Late‐Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case
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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
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- Efficacy of levodopa/benserazide dispersible tablet on the ‘Delayed-ON’ to first morning dose in patients with Parkinson’s disease with motor fluctuations: a multicenter, randomized, open-label, cross-over trial
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Hee Jin Chang, Jongkyu Park, Sohee Oh, Chae Won Shin, Ji Won Kim, Jin Whan Cho, Jee-Young Lee
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Received February 5, 2025 Accepted May 3, 2025 Published online May 7, 2025
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DOI: https://doi.org/10.14802/jmd.25031
[Accepted]
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Abstract
PDF
- Background
Delayed ON is a condition in which Parkinson's disease (PD) patients do not experience the effect of levodopa in time after taking the dosage. The efficacy of various oral levodopa regimens to overcome this problem has been investigated limitedly.
Objective To evaluate the efficacy of levodopa/benserazide dispersible tablet in PD patients with delayed ON to first morning dose.
Methods This multicenter, randomized, cross-over trial involved 40 eligible PD patients with delayed ON. Participants were randomized to receive either levodopa/benserazide 100mg dispersible or regular tablets for 4 weeks, thereafter one week wash-out interval, followed by an alternate drug for another 4-week. Participants took the investigational drug with the first-morning dose of their antiparkinsonian medications. Other medications were unchanged during the trial. The primary outcome was changes in time-to-ON after the first-morning dose recorded in a special diary before and after each therapy. We also evaluated changes in parkinsonism, motor fluctuations, and dyskinesia using the Unified PD Rating Scale and Unified Dyskinesia Rating Scale. Finally, we investigated whether the efficacy wase affected by Helicobacter pylori status using baseline serum samples from every participant.
Results Nine patients dropped out during the trial. The time-to-ON was significantly reduced by the dispersible tablet compared with the regular tablet (-34.72 vs -23.81 minutes, p=0.014). There were no significant changes in parkinsonian severity or dyskinesia with either drug. The dispersible formulation was beneficial for both Helicobacter pylori-positive and -negative groups.
Conclusion Levodopa/benserazide dispersible formulations can improve time-to-ON without exacerbating dyskinesia in PD patients suffering from delayed ON.
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