- Evaluating the Validity and Reliability of the Korean Version of the Scales for Outcomes in Parkinson’s Disease–Cognition
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Jinse Park, Eungseok Oh, Seong-Beom Koh, In-Uk Song, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Yoon-Joong Kim, Jin Whan Cho, Hyeo-Il Ma, Mee Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Seon Kim, Ji Young Yun, Hee Jin Kim, Jin Yong Hong, Mi-Jung Kim, Jinyoung Youn, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim, Ji-Young Kim
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J Mov Disord. 2024;17(3):328-332. Published online April 3, 2024
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DOI: https://doi.org/10.14802/jmd.24061
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Abstract
PDFSupplementary Material
- Objective
The Scales for Outcomes in Parkinson’s Disease–Cognition (SCOPA-Cog) was developed to assess cognition in patients with Parkinson’s disease (PD). In this study, we aimed to evaluate the validity and reliability of the Korean version of the SCOPACog (K-SCOPA-Cog).
Methods We enrolled 129 PD patients with movement disorders from 31 clinics in South Korea. The original version of the SCOPA-Cog was translated into Korean using the translation-retranslation method. The test–retest method with an intraclass correlation coefficient (ICC) and Cronbach’s alpha coefficient were used to assess reliability. Spearman’s rank correlation analysis with the Montreal Cognitive Assessment-Korean version (MOCA-K) and the Korean Mini-Mental State Examination (K-MMSE) were used to assess concurrent validity.
Results The Cronbach’s alpha coefficient was 0.797, and the ICC was 0.887. Spearman’s rank correlation analysis revealed a significant correlation with the K-MMSE and MOCA-K scores (r = 0.546 and r = 0.683, respectively).
Conclusion Our results demonstrate that the K-SCOPA-Cog has good reliability and validity.
- Effectiveness of Live-Streaming Tele-Exercise Intervention in Patients With Parkinson’s Disease: A Pilot Study
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Jongmok Ha, Jung Hyun Park, Jun Seok Lee, Hye Young Kim, Ji One Song, Jiwon Yoo, Jong Hyeon Ahn, Jinyoung Youn, Jin Whan Cho
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J Mov Disord. 2024;17(2):189-197. Published online February 29, 2024
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DOI: https://doi.org/10.14802/jmd.23251
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Abstract
PDFSupplementary Material
- Objective
Exercise can improve both motor and nonmotor symptoms in people with Parkinson’s disease (PwP), but there is an unmet need for accessible and sustainable exercise options. This study aimed to evaluate the effect, feasibility, and safety of a regularly performed live-streaming tele-exercise intervention for PwP.
Methods A live-streaming exercise intervention for PwP was implemented twice a week for 12 weeks. We measured the motor and nonmotor symptom scores of the included patients before and after the intervention. Changes in clinical scores from baseline to postintervention were analyzed using paired t-tests. Factors associated with improvements in clinical scores and compliance were analyzed using Pearson’s correlation analysis.
Results Fifty-six participants were enrolled in the study. There were significant improvements in Hospital Anxiety and Depression Scale (HADS)-anxiety (p = 0.007), HADS-depression (p < 0.001), Unified Parkinson’s Disease Rating Scale (UPDRS) part III (p < 0.001), UPDRS total (p = 0.015), Hoehn and Yahr stage (p = 0.027), and Parkinson’s Disease Fatigue Scale-16 (p = 0.026) scores after the intervention. Improvements in motor symptoms were associated with improvements in mood symptoms and fatigue. Higher motor impairment at baseline was associated with a greater compliance rate and better postintervention composite motor and nonmotor outcomes (ΔUPDRS total score). Overall, the 12-week tele-exercise program was feasible and safe for PwP. No adverse events were reported. The overall adherence rate was 60.0% in our cohort, and 83.4% of the participants were able to participate in more than half of the exercise routines.
Conclusion The live-streaming tele-exercise intervention is a safe, feasible, and effective nonpharmacological treatment option that can alleviate fatigue and improve mood and motor symptoms in PwP.
- Caregiver Burden of Patients With Huntington’s Disease in South Korea
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Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee
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J Mov Disord. 2024;17(1):30-37. Published online September 11, 2023
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DOI: https://doi.org/10.14802/jmd.23134
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Abstract
PDFSupplementary Material
- Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.
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Citations
Citations to this article as recorded by
- A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea
Chaewon Shin, Ryul Kim, Dallah Yoo, Eungseok Oh, Jangsup Moon, Minkyeong Kim, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon Journal of Movement Disorders.2024; 17(2): 138. CrossRef - Attitude toward physical activity among Asian American family caregivers of persons living with dementia
JiWon Choi, Van Park, Andrew Jung, Janice Tsoh Geriatric Nursing.2024;[Epub] CrossRef
- A Case of Post-Malaria Neurological Syndrome Presenting With Cortical Tremor
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Jun Seok Lee, Seongmi Kim, Jongmok Ha, Jinyoung Youn, Jin Whan Cho, Jong Hyeon Ahn
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J Mov Disord. 2024;17(1):115-117. Published online November 2, 2023
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DOI: https://doi.org/10.14802/jmd.23164
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PDFSupplementary Material
- Safinamide as an Adjunct to Levodopa in Asian and Caucasian Patients With Parkinson’s Disease and Motor Fluctuations: A Post Hoc Analysis of the SETTLE Study
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Roongroj Bhidayasiri, Takayuki Ishida, Takanori Kamei, Ryan Edbert Husni, Ippei Suzuki, Shey Lin Wu, Jin Whan Cho
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J Mov Disord. 2023;16(2):180-190. Published online April 26, 2023
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DOI: https://doi.org/10.14802/jmd.22196
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Abstract
PDFSupplementary Material
- Objective
Safinamide is a selective, reversible monoamine oxidase B inhibitor with demonstrated efficacy and tolerability in placebo-controlled studies and is clinically useful for patients with motor fluctuations. This study evaluated the efficacy and safety of safinamide as a levodopa adjunct therapy in Asian patients with Parkinson’s disease.
Methods Data from 173 Asian and 371 Caucasian patients from the international Phase III SETTLE study were included in this post hoc analysis. The safinamide dose was increased from 50 mg/day to 100 mg/day if no tolerability issues occurred at week 2. The primary outcome was the change from baseline to week 24 in daily ON-time without troublesome dyskinesia (i.e., ON-time). Key secondary outcomes included changes in Unified Parkinson’s Disease Rating Scale (UPDRS) scores.
Results Safinamide significantly increased daily ON-time relative to placebo in both groups (least-squares mean: 0.83 hours, p = 0.011 [Asians]; 1.05 hours, p < 0.0001 [Caucasians]). Motor function relative to placebo (UPDRS Part III) improved significantly in Asians (-2.65 points, p = 0.012) but not Caucasians (-1.44 points, p = 0.0576). Safinamide did not worsen Dyskinesia Rating Scale scores in either subgroup, regardless of the presence or absence of dyskinesia at baseline. Dyskinesia was largely mild for Asians and moderate for Caucasians. None of the Asian patients experienced adverse events leading to treatment discontinuation.
Conclusion Safinamide as a levodopa adjunct is well tolerated and effective in reducing motor fluctuations in both Asian and Caucasian patients. Further studies to investigate the real-world effectiveness and safety of safinamide in Asia are warranted.
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Citations
Citations to this article as recorded by
- The Effects of Safinamide in Chinese and Non-Chinese Patients with Parkinson’s Disease
Carlo Cattaneo, Jaime Kulisevsky Advances in Therapy.2024; 41(2): 638. CrossRef - Safinamide as adjunctive therapy to levodopa monotherapy for patients with Parkinson's disease with wearing-off: The Japanese observational J-SILVER study
Noriko Nishikawa, Taku Hatano, Kenya Nishioka, Shin-Ichi Ueno, Shinji Saiki, Ryota Nakamura, Asako Yoritaka, Takashi Ogawa, Yasushi Shimo, Wataru Sako, Hideki Shimura, Yoshiaki Furukawa, Takanori Kamei, Takayuki Ishida, Nobutaka Hattori Journal of the Neurological Sciences.2024; 461: 123051. CrossRef
- Validity and Reliability of the Korean-Translated Version of the International Cooperative Ataxia Rating Scale in Cerebellar Ataxia
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Jinse Park, Jin Whan Cho, Jinyoung Youn, Engseok Oh, Wooyoung Jang, Joong-Seok Kim, Yoon-Sang Oh, Hyungyoung Hwang, Chang-Hwan Ryu, Jin-Young Ahn, Jee-Young Lee, Seong-Beom Koh, Jae H. Park, Hee-Tae Kim
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J Mov Disord. 2023;16(1):86-90. Published online December 20, 2022
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DOI: https://doi.org/10.14802/jmd.22137
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Abstract
PDFSupplementary Material
- Objective
The International Cooperative Ataxia Rating Scale (ICARS) is a semiquantitative clinical scale for ataxia that is widely used in numerous countries. The purpose of this study was to investigate the validity and reliability of the Korean-translated version of the ICARS.
Methods Eighty-eight patients who presented with cerebellar ataxia were enrolled. We investigated the construct validity using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). We also investigated the internal consistency using Cronbach’s α and intrarater and interrater reliability using intraclass correlation coefficients.
Results The Korean-translated ICARS showed satisfactory construct validity using EFA and CFA. It also revealed good interrater and intrarater reliability and showed acceptable internal consistency. However, subscale 4 for assessing oculomotor disorder showed moderate internal consistency.
Conclusion This is the first report to investigate the validity and reliability of the Korean-translated ICARS. Our results showed excellent construct and convergent validity. The reliability is also acceptable.
- Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
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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
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J Mov Disord. 2020;13(2):154-158. Published online April 6, 2020
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DOI: https://doi.org/10.14802/jmd.19087
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7,862
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Abstract
PDFSupplementary Material
- Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
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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 - GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić Frontiers in Neurology.2023;[Epub] CrossRef - KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal Journal of Movement Disorders.2023; 16(3): 285. CrossRef - Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
Priyanka Dey Talukdar, Urmi Chatterji Signal Transduction and Targeted Therapy.2023;[Epub] CrossRef - GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava Movement Disorders Clinical Practice.2022; 9(1): 31. CrossRef - Dystonic Tremor in Adult-onset DYT-KMT2B
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi Internal Medicine.2022; 61(15): 2357. CrossRef - Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
V. A. Bulanova, M. A. Bykanova, N. А. Kuleva Russian Journal of Child Neurology.2022; 17(3): 79. CrossRef - Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou Molecular Biology Reports.2021; 48(1): 371. CrossRef - Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon Journal of Neural Transmission.2021; 128(4): 539. CrossRef - Deep Brain Stimulation for Pediatric Dystonia
Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley Seminars in Pediatric Neurology.2021; 38: 100896. CrossRef - Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck Frontiers in Neurology.2021;[Epub] CrossRef - Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira Annals of Clinical and Translational Neurology.2020; 7(10): 2047. CrossRef -
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate, Brain.2020; 143(11): 3242. CrossRef
- 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
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.
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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
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
- Patients and Their Caregivers’ Burdens for Parkinson’s Disease in Korea
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Jong Sam Baik, Joong-Seok Kim, Seong-Beom Koh, Jin Whan Cho, Phil Hyu Lee, Hyeo-Il Ma, Yun Joong Kim, Tae-Beom Ahn, Sang Jin Kim, Yong Duk Kim, Seong-min Choi, Ho-Won Lee, Hee Tae Kim
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J Mov Disord. 2017;10(3):109-115. Published online September 22, 2017
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DOI: https://doi.org/10.14802/jmd.17053
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Abstract
PDF
- Objective
Many patients with Parkinson’s disease (PD) suffer from motor and non-motor symptoms. According to these variable symptoms of PD, patients or caregivers have a poorer quality of life than patients with other neurodegenerative diseases. Since the difficulties are varied for all patients, prioritizing their difficulties differs among all cases. The goal of this study was to investigate the burdens of PD among the caregivers as well as patients and to identify areas requiring aid from the government.
Methods
We surveyed the awareness and perceptions of PD in patients and caregivers of PD by a face-to-face questionnaire. The questionnaire was divided into three sections: symptoms of PD (part A), desire for policies (part B), and difficulties faced by their caregivers (part C). Part A comprised 8 questions, Part B had 2 questions, and Part C had 3 questions.
Results
In total, 853 subjects (702 patients and 151 caregivers) were enrolled in this study. The major difficulties experienced by PD patients were physical (67%), psychiatric (60%) and socio-economic (52%). Assessing the physical difficulties, more than half the patients experienced severe difficulties (29% very severe, 39% severe). Psychiatric difficulties were assessed as severe (35%) and very severe (21%) among the patients. Severe difficulties were also experienced socio-economically, at 52% in patients and 49% in caregivers, especially among patients in their fifties (58%) and those with their spouse (65%) as caregivers. The topmost need was the introduction of new technology for treatment of PD (62%), followed by relief of costs for treatment (38%) and a family support system (31%). The majority (91%) of the patients were diagnosed with PD within two years after onset of symptoms.
Conclusion
We know that the difficulties of PD and the needs for government assistance are different between patients and caregivers. These results emphasize that perceiving the difficulties and needs of patients and caregivers early can help to prevent and ameliorate the burden of disease.
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Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon Journal of Movement Disorders.2023; 16(1): 52. CrossRef - Efficacy and safety of a combination of emotional freedom technique with acupuncture versus acupuncture alone to treat psychiatric symptoms in Parkinson’s disease: A protocol for a randomized, assessor-blind, parallel-group clinical trial
Dong-Hoon Kang, Ju-Yeon Kim, Yang-Chun Park, Ho-Ryong Yoo, In Chul Jung Medicine.2023; 102(21): e33714. CrossRef - Exploring Unmet Information Needs of People with Parkinson’s Disease and Their Families: Focusing on Information Sharing in an Online Patient Community
Hyeon Sik Chu, Hye Young Jang International Journal of Environmental Research and Public Health.2022; 19(5): 2521. CrossRef - Participants' perspective on a COVID-19 online vocal group stimulation for people with Parkinson's disease
Marie-Christine Hallé, Charline Delorme, Édith Coulombe, Ouswa Rekik, Ingrid Verduyckt Frontiers in Rehabilitation Sciences.2022;[Epub] CrossRef - Group singing improves quality of life for people with Parkinson’s: an international study
J. Yoon Irons, Grenville Hancox, Trish Vella-Burrows, Eun-Young Han, Hyun-Ju Chong, David Sheffield, Donald E. Stewart Aging & Mental Health.2021; 25(4): 650. CrossRef - Exploring the perceptions and stigmatizing experiences of Israeli family caregivers of people with Parkinson's disease
Hanan AboJabel, Einat Argavan, Sharon Hassin-Baer, Rivka Inzelberg, Perla Werner Journal of Aging Studies.2021; 56: 100910. CrossRef - Perceived online social support for Parkinson’s disease patients: The role of support type, uncertainty, contentment, and psychological quality of life
Surin Chung, Eunjin (Anna) Kim, J. Brian Houston Communication Quarterly.2021; 69(3): 259. CrossRef - Delivering patient-centered care in Parkinson's disease: Challenges and consensus from an international panel
Roongroj Bhidayasiri, Pattamon Panyakaew, Claudia Trenkwalder, Beomseok Jeon, Nobutaka Hattori, Priya Jagota, Yih-Ru Wu, Elena Moro, Shen-Yang Lim, Huifang Shang, Raymond Rosales, Jee-Young Lee, Win Min Thit, Eng-King Tan, Thien Thien Lim, Ngoc Tai Tran, Parkinsonism & Related Disorders.2020; 72: 82. CrossRef - Understanding patients’ and caregivers’ perspectives and educational needs in Parkinson’s disease: a multi-ethnic Asian study
Xing Yan Choo, Shen-Yang Lim, Karuthan Chinna, Yan Jing Tan, Voon Wei Yong, Jia Lun Lim, Kar Foo Lau, Jing Yi Chung, Jun Min Em, Hui Ting Tan, Jia Hwa Lim, Seng Beng Tan, Chong Tin Tan, Ai Huey Tan Neurological Sciences.2020; 41(10): 2831. CrossRef - Nörolojik Hastalık ve Evlilik
Mehmet ÖNGER, Tuba AYDIN Sakarya Medical Journal.2020;[Epub] CrossRef - The burden of care and the understanding of disease in Parkinson’s disease
Geum-Bong Lee, Hyunhee Woo, Su-Yoon Lee, Sang-Myung Cheon, Jae Woo Kim, Oscar Arias-Carrion PLOS ONE.2019; 14(5): e0217581. CrossRef
- Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic
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Ji-Young Kim, In-Uk Song, Seong-Beom Koh, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Jin Whan Cho, Yun Joong Kim, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Eung Seok Oh, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Hyung-Eun Park, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim
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J Mov Disord. 2017;10(1):29-34. Published online January 18, 2017
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DOI: https://doi.org/10.14802/jmd.16057
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Abstract
PDFSupplementary Material
- Objective
Autonomic symptoms are commonly observed in patients with Parkinson’s disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson’s disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients.
Methods
For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days.
Results
The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach’s α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson’s Disease Rating Scale part II) and quality of life [the Korean version of Parkinson’s Disease Quality of Life 39 (K-PDQ39)].
Conclusion
The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.
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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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Abstract
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.
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- 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
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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
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 Revue Neurologique.2017; 173(10): 658. CrossRef - Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
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- Hereditary Cerebellar Ataxias: A Korean Perspective
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Ji Sun Kim, Jin Whan Cho
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J Mov Disord. 2015;8(2):67-75. Published online May 31, 2015
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DOI: https://doi.org/10.14802/jmd.15006
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Abstract
PDF
- Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.
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Elan D. Louis, Phyllis L. Faust Cerebellum & Ataxias.2020;[Epub] CrossRef - Identifying SYNE1 ataxia and extending the mutational spectrum in Korea
Ji Sun Kim, Ah Reum Kim, Jinyoung Youn, Chung Lee, Nam-Soon Kim, Woong-Yang Park, Jong Kyu Park, Nayoung K.D. Kim, Jin Whan Cho Parkinsonism & Related Disorders.2019; 58: 74. CrossRef - Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
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Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin Brain and Behavior.2019;[Epub] CrossRef - Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias
Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Cho Scientific Reports.2019;[Epub] CrossRef - The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population
Ji Sun Kim, Soonwook Kwon, Chang-Seok Ki, Jinyoung Youn, Jin Whan Cho Journal of Clinical Neurology.2018; 14(3): 374. CrossRef - Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini Arquivos de Neuro-Psiquiatria.2018; 76(10): 674. CrossRef - The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia
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Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin, Dae-Seong Kim, Kyung-Pil Park, Hyang-Sook Kim, Jae-Hwan Choi Scientific Reports.2017;[Epub] CrossRef - Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
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- Preliminary Study of Intravenous Amantadine Treatment for Ataxia Management in Patients with Probable Multiple System Atrophy with Predominant Cerebellar Ataxia
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Jinyoung Youn, Hyeeun Shin, Ji Sun Kim, Jin Whan Cho
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J Mov Disord. 2012;5(1):1-4.
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DOI: https://doi.org/10.14802/jmd.12001
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11,441
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Abstract
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Background and Purpose:
Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with probable multiple system atrophy with predominant cerebellar ataxia.
Methods:
Twenty patients (10 male, 10 female) with probable multiple system atrophy with predominant cerebellar ataxia received 400 mg of amantadine by intravenous per day for 5 days. Ataxia severity was evaluated by the International Cooperative Ataxia Rating Scale before and after intravenous amantadine therapy and all subjects reported subjective improvement after intravenous amantadine treatment using a patient global impression scale. We analyzed the total and subscale scores by the ataxia scale and patient global impression scale.
Results:
The mean age was 57.4 years (range: 47–72) and the mean disease duration was 30.8 months (range: 11–79). The ataxia severity significantly decreased after intravenous amantadine therapy from 42.5 to 37.3 (p < 0.001). The mean patient global impression scale for improvement was 2.9 and there were no side effects of intravenous amantadine treatment observed. When we assessed responders, the duration of intravenous amantadine effect was more than 1 month in 4 subjects of 7 responders.
Conclusions:
Our findings suggest that intravenous amantadine treatment can be a safe management option in cerebellar ataxia, although the mechanism is unclear. Thus, further double-blind, long-term studies with a larger sample size are needed.
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Md. Rajdoula Rafe, Pranoy Saha, Stephen Temitayo Bello Behavioural Brain Research.2024; 472: 115173. CrossRef - Amantadine withdrawal in a patient with spinocerebellar ataxia
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Ghada M. Aboelfadl, Saeid Elsawy, Belal O. Elnady, Rasha Hamed Perioperative Care and Operating Room Management.2021; 24: 100166. CrossRef - Amantadine in the treatment of Parkinson’s disease. New opportunities in the context of COVID-19
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- Taltirelin Hydrate in Patients with Ataxia Due to Spinocerebellar Degeneration
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Jin Whan Cho, Jee-Young Lee, Han-Joon Kim, Joong-Seok Kim, Kun-Woo Park, Seong-Min Choi, Chul Hyoung Lyoo, Seong-Beom Koh
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Received May 28, 2024 Accepted October 18, 2024 Published online October 21, 2024
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DOI: https://doi.org/10.14802/jmd.24127
[Accepted]
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Abstract
PDF
- Objective
We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in spinocerebellar degeneration (SCD).
Methods
Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was changes in the Korean version of Scale for the Assessment and Rating of Ataxia (K-SARA) scores at 24 weeks. The secondary endpoints include changes in the K-SARA scores at 4 and 12 weeks, the Clinical Global Impression, Five-level version of the EuroQol five-dimensional questionnaire, Tinetti balance test and gait analysis at 4, 12 and 24 weeks.
Results
A total of 149 patients (hereditary:non-hereditary = 86:63) were enrolled. There were significant differences in changes in K-SARA scores at 24 weeks from baseline between the taltirelin group and the control group (-0.51 ± 2.79 versus 0.36 ± 2.62, respectively; p = 0.0321). Of the K-SARA items, both ‘Stance’ and ‘Speech disturbance’ had significantly lower subscores in the taltirelin group as compared with the control group (-0.04 ± 0.89 versus 0.23 ± 0.79 and -0.07 ± 0.74 versus 0.18 ± 0.67; p = 0.0270 and 0.0130, respectively). But there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p > 0.05).
Conclusion
Clinicians might consider using TH in the treatment of ataxia due to SCD.
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