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Letter to the editor
Olfactory and Gustatory Function in Early-Stage Parkinson’s Disease: Implications for Cognitive Association
Jeongjae Lee, Young Eun Kim, Joong Seob Lee, Suk Yun Kang, Min Seung Kim, In Hee Kwak, Jaeseol Park, Jung Yeon Nam, Hyeo-il Ma
Received November 20, 2023  Accepted June 27, 2024  Published online June 27, 2024  
DOI: https://doi.org/10.14802/jmd.23243    [Epub ahead of print]
  • 638 View
  • 36 Download
PDFSupplementary Material
Original Articles
Article image
Comparative Olfactory Profiles in Parkinson’s Disease and Drug-Induced Parkinsonism
In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-il Ma
J Mov Disord. 2024;17(1):64-70.   Published online October 6, 2023
DOI: https://doi.org/10.14802/jmd.23105
  • 1,837 View
  • 299 Download
AbstractAbstract PDFSupplementary Material
Objective
Drug-induced parkinsonism (DIP) is a frequently encountered diagnostic possibility when considering Parkinson’s disease (PD). While olfactory dysfunction is a common clinical feature in PD, the comparison of olfactory function between the two conditions remains insufficient. This study aimed to compare olfactory function, including threshold, discrimination, and identification (TDI) profiles, between PD and DIP.
Methods
Consecutive patients with drug-naïve PD (n = 78) or DIP (n = 31) confirmed through dopamine transporter imaging were enrolled in this study. The YSK olfactory function (YOF) test, composed of TDI domains culturally familiar odorants to Koreans, was administered to all patients.
Results
In the study population, patients with DIP were significantly older than patients with PD. Over 70% of patients in each group had hyposmia or anosmia, and there was no significant difference in the occurrence of olfactory dysfunction between the two groups. In addition, there were no differences in the total YOF score and threshold score between the two groups. Meanwhile, the PD group had a significantly lower discrimination and identification score than the DIP group after adjusting for age, sex, the existence of diabetes, disease duration, and cognitive function.
Conclusion
This study demonstrated that detailed olfactory profiles are different in PD and DIP, even though olfactory dysfunction can be observed in both conditions.
Article image
Caregiver Burden of Patients With Huntington’s Disease in South Korea
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
J Mov Disord. 2024;17(1):30-37.   Published online September 11, 2023
DOI: https://doi.org/10.14802/jmd.23134
  • 3,603 View
  • 347 Download
  • 1 Web of Science
  • 1 Crossref
  • 1 Comments
AbstractAbstract 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.

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
Brief communication
Article image
A Survey of Perspectives on Telemedicine for Patients With Parkinson’s Disease
Jae Young Joo, Ji Young Yun, Young Eun Kim, Yu Jin Jung, Ryul Kim, Hui-Jun Yang, Woong-Woo Lee, Aryun Kim, Han-Joon Kim
J Mov Disord. 2024;17(1):89-93.   Published online August 22, 2023
DOI: https://doi.org/10.14802/jmd.23130
  • 2,104 View
  • 321 Download
AbstractAbstract PDFSupplementary Material
Objective
Parkinson’s disease (PD) patients often find it difficult to visit hospitals because of motor symptoms, distance to the hospital, or the absence of caregivers. Telemedicine is one way to solve this problem.
Methods
We surveyed 554 PD patients from eight university hospitals in Korea. The questionnaire consisted of the clinical characteristics of the participants, possible teleconferencing methods, and preferences for telemedicine.
Results
A total of 385 patients (70%) expressed interest in receiving telemedicine. Among them, 174 preferred telemedicine whereas 211 preferred in-person visits. The longer the duration of disease, and the longer the time required to visit the hospital, the more patients were interested in receiving telemedicine.
Conclusion
This is the first study on PD patients’ preferences regarding telemedicine in Korea. Although the majority of patients with PD have a positive view of telemedicine, their interest in receiving telemedicine depends on their different circumstances.
Review Article
Article image
Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy
Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim
J Mov Disord. 2022;15(1):1-14.   Published online November 3, 2021
DOI: https://doi.org/10.14802/jmd.21078
  • 8,494 View
  • 555 Download
  • 14 Web of Science
  • 15 Crossref
AbstractAbstract PDF
Accumulation of alpha-synuclein (αSyn) protein in neurons is a renowned pathological hallmark of Parkinson’s disease (PD). In addition, accumulating evidence indicates that activated inflammatory responses are involved in the pathogenesis of PD. Thus, achieving a better understanding of the interaction between inflammation and synucleinopathy in relation to the PD process will facilitate the development of promising disease-modifying therapies. In this review, the evidence of inflammation in PD is discussed, and human, animal, and laboratory studies relevant to the relationship between inflammation and αSyn are explored as well as new therapeutic targets associated with this relationship.

Citations

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  • Recent advances of nanomaterials for intervention in Parkinson’s disease in the context of anti-inflammation
    Ruoyu Zhang, Xiaotong Chen, Yuanyuan Cheng, Zixuan Chen, Xiaoqiong Li, Yulin Deng
    Coordination Chemistry Reviews.2024; 502: 215616.     CrossRef
  • Microglial inhibition alleviates alpha-synuclein propagation and neurodegeneration in Parkinson’s disease mouse model
    Thuy Thi Lai, Young Eun Kim, Linh Thi Nhat Nguyen, Tinh Thi Nguyen, In Hee Kwak, Franziska Richter, Yun Joong Kim, Hyeo-il Ma
    npj Parkinson's Disease.2024;[Epub]     CrossRef
  • New Insights into Oxidative Stress and Inflammatory Response in Neurodegenerative Diseases
    Eveljn Scarian, Camilla Viola, Francesca Dragoni, Rosalinda Di Gerlando, Bartolo Rizzo, Luca Diamanti, Stella Gagliardi, Matteo Bordoni, Orietta Pansarasa
    International Journal of Molecular Sciences.2024; 25(5): 2698.     CrossRef
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    Tatsuhiro Terada, Tomoyasu Bunai, Takanori Hashizume, Takashi Matsudaira, Masamichi Yokokura, Hirotsugu Takashima, Takashi Konishi, Tomokazu Obi, Yasuomi Ouchi
    Scientific Reports.2024;[Epub]     CrossRef
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    Saeed Mohammad Soleymani, Farhad Assarzadegan, Seyed Amir Hassan Habibi, Arash Mahboubi, Hadi Esmaily
    Parkinsonism & Related Disorders.2024; 126: 107051.     CrossRef
  • Parkinson’s disease is associated with clonal hematopoiesis with TET2 mutation
    Kyung Ah Woo, Han-Joon Kim, Chan Young Lee, Jung Hwan Shin, Choonghyun Sun, Hogune Im, Hongyul An, Jiwoo Lim, Su-Yeon Choi, Youngil Koh, Beomseok Jeon
    npj Parkinson's Disease.2024;[Epub]     CrossRef
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    G. V. Idova, E. L. Alperina, S. Ya. Zhanaeva
    Neuroscience and Behavioral Physiology.2023; 53(9): 1534.     CrossRef
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    Erlânia Alves de Siqueira, Emanuel Paula Magalhães, Ramon Róseo Paula Pessoa Bezerra de Menezes, Tiago Lima Sampaio, Danya Bandeira Lima, Conceição da Silva Martins, Kelly Rose Tavares Neves, Gerly Anne de Castro Brito, Alice Maria Costa Martins, Glauce S
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    Ran Zheng, Yiqun Yan, Shaobing Dai, Yang Ruan, Ying Chen, Chenjun Hu, Zhihao Lin, Naijia Xue, Zhe Song, Yi Liu, Baorong Zhang, Jiali Pu
    Journal of Neuroinflammation.2023;[Epub]     CrossRef
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    Qiu-Qin Han, Weidong Le
    Neuroscience Bulletin.2023; 39(5): 832.     CrossRef
  • The Role of Ubiquitin–Proteasome System and Mitophagy in the Pathogenesis of Parkinson's Disease
    Yu Liang, Guangshang Zhong, Mingxin Ren, Tingting Sun, Yangyang Li, Ming Ye, Caiyun Ma, Yu Guo, Changqing Liu
    NeuroMolecular Medicine.2023; 25(4): 471.     CrossRef
  • Anethole attenuates motor dysfunctions, striatal neuronal activity deficiency and blood brain barrier permeability by decreasing striatal α-synuclein and oxidative stress in rotenone-induced Parkinson’s disease of male rats
    Sadegh Moradi Vastegani, Seyed Esmaeil Khoshnam, Samireh Ghafouri, Nima Bakhtiari, Yaghoob Farbood, Alireza Sarkaki, Wesley Lyeverton Correia Ribeiro
    PLOS ONE.2023; 18(11): e0294612.     CrossRef
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    G. V. Idova, E. L. Alperina, S. Ya. Zhanaeva
    Журнал высшей нервной деятельности им. И.П. Павлова.2023; 73(4): 454.     CrossRef
  • A2A Adenosine Receptor Antagonists: Are Triazolotriazine and Purine Scaffolds Interchangeable?
    Andrea Spinaci, Catia Lambertucci, Michela Buccioni, Diego Dal Ben, Claudia Graiff, Maria Cristina Barbalace, Silvana Hrelia, Cristina Angeloni, Seyed Khosrow Tayebati, Massimo Ubaldi, Alessio Masi, Karl-Norbert Klotz, Rosaria Volpini, Gabriella Marucci
    Molecules.2022; 27(8): 2386.     CrossRef
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    Gianluigi Forloni, Pietro La Vitola, Claudia Balducci
    Frontiers in Neuroscience.2022;[Epub]     CrossRef
Original Articles
Musculoskeletal Problems Affect the Quality of Life of Patients with Parkinson’s Disease
Young Eun Kim, Han-Joon Kim, Ji Young Yun, Woong-Woo Lee, Hui-Jun Yang, Jong-Min Kim, Beomseok Jeon
J Mov Disord. 2018;11(3):133-138.   Published online September 30, 2018
DOI: https://doi.org/10.14802/jmd.18022
  • 8,814 View
  • 153 Download
  • 12 Web of Science
  • 10 Crossref
AbstractAbstract PDF
Objective
Musculoskeletal problems are more common in patients with Parkinson’s disease (PD) than in normal elderly, but the impact of musculoskeletal problems on health-related quality of life (HRQoL) in patients with PD is unknown.
Methods
Four hundred consecutive patients with PD were enrolled for the evaluation of musculoskeletal problems and HRQoL. HRQoL was assessed by the 36-Item Short Form Health Survey, which comprised physical health and mental health.
Results
Of the total patients, 265 patients had musculoskeletal problems, and 135 patients did not have musculoskeletal problems. Patients with musculoskeletal problems reported lower levels of HRQoL in terms of physical health than did patients without musculoskeletal problems (p < 0.05). In women, all components of physical health were lower in patients with musculoskeletal problems than in patients without musculoskeletal problems (p < 0.05). Meanwhile, in men, only the bodily pain score of physical health was lower in patients with musculoskeletal problems than in patients without musculoskeletal problems. Mental health and physical health were negatively correlated with depression, Unified Parkinson’s Disease Rating Scale I & II scores, and pain severity from musculoskeletal problems, in that order (p < 0.01 for all).
Conclusion
These results suggest that musculoskeletal problems in patients with PD affect HRQoL significantly, mainly in terms of physical health rather than mental health and especially in women rather than men. Musculoskeletal problems should not be overlooked in the care of patients with PD.

Citations

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  • Assessments scales for the evaluation of health-related quality of life in Parkinson's disease, progressive supranuclear palsy, and multiple system atrophy: a systematic review
    Maria Lucia Maiuolo, Roberto Giorgini, Maria Grazia Vaccaro, Alessio Facchin, Andrea Quattrone, Aldo Quattrone
    Frontiers in Psychology.2024;[Epub]     CrossRef
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    Guangchen Sun, Hui Yu, Jun Cui, Ming Li, Yuefang Ru
    Medicine.2022; 101(52): e32315.     CrossRef
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    Dominic A. Alaazi, Devidas Menon, Tania Stafinski, Stephen Hodgins, Gian Jhangri
    Social Science & Medicine.2021; 270: 113659.     CrossRef
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    Bogumiła Pniak, Justyna Leszczak, Jadwiga Kurczab, Aleksandra Krzemińska, Joanna Pięta, Agnieszka Plis, Ewelina Czenczek-Lewandowska, Agnieszka Guzik
    Brain Sciences.2021; 11(4): 501.     CrossRef
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    Olga Khazen, Marisa DiMarzio, Kelsey Platanitis, Heather C. Grimaudo, Maria Hancu, Miriam M. Shao, Michael D. Staudt, Lucy Maguire, Vishad V. Sukul, Jennifer Durphy, Era K. Hanspal, Octavian Adam, Eric Molho, Julie G. Pilitsis
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    Ji-Hyun Choi, Jong-Min Kim, Hee Kyung Yang, Hyo-Jung Lee, Cheol Min Shin, Seong Jin Jeong, Won-Seok Kim, Ji Won Han, In-Young Yoon, Yoo Sung Song, Yun Jung Bae
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    Simon Katz, Kevin B. Marchand, Rushabh M. Vakharia, Hiba Anis, Nipun Sodhi, Nicolas S. Piuzzi, Michael A. Mont, Martin W. Roche
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    Parkinsonism & Related Disorders.2019; 68: 73.     CrossRef
Article image
Amantadine and the Risk of Dyskinesia in Patients with Early Parkinson’s Disease: An Open-Label, Pragmatic Trial
Aryun Kim, Young Eun Kim, Ji Young Yun, Han-Joon Kim, Hui-Jun Yang, Woong-Woo Lee, Chae Won Shin, Hyeyoung Park, Yu Jin Jung, Ahro Kim, Yoon Kim, Mihee Jang, Beomseok Jeon
J Mov Disord. 2018;11(2):65-71.   Published online May 30, 2018
DOI: https://doi.org/10.14802/jmd.18005
  • 10,178 View
  • 261 Download
  • 12 Web of Science
  • 15 Crossref
AbstractAbstract PDFSupplementary Material
Objective
We examined whether amantadine can prevent the development of dyskinesia.
Methods
Patients with drug-naïve Parkinson’s disease (PD), younger than 70 years of age and in the early stage of PD (Hoehn and Yahr scale < 3), were recruited from April 2011 to December 2014. The exclusion criteria included the previous use of antiparkinsonian medication, the presence of dyskinesia, significant psychological disorders, and previous history of a hypersensitivity reaction. Patients were consecutively assigned to one of 3 treatment groups in an open label fashion: Group A-1, amantadine first and then levodopa when needed; Group A-2, amantadine first, dopamine agonist when needed, and then levodopa; and Group B, dopamine agonist first and then levodopa when needed. The primary endpoint was the development of dyskinesia, which was analyzed by the Kaplan-Meier survival rate.
Results
A total of 80 patients were enrolled: Group A-1 (n = 27), Group A-2 (n = 27), and Group B (n = 26). Twenty-four patients were excluded from the analysis due to the following: withdrawal of amantadine or dopamine agonist (n = 9), alternative diagnosis (n = 2), withdrawal of consent (n = 1), and breach in the protocol (n = 12). After exclusion, 5 of the 56 (8.93%) patients developed dyskinesia. Patients in Group A-1 and A-2 tended to develop dyskinesia less often than those in Group B (cumulative survival rates of 0.933, 0.929, and 0.700 for A-1, A-2, and B, respectively; p = 0.453).
Conclusion
Amantadine as an initial treatment may decrease the incidence of dyskinesia in patients with drug-naïve PD.

Citations

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  • Exploring causal effects of sarcopenia on risk and progression of Parkinson disease by Mendelian randomization
    Tao Wang, Jiaquan Geng, Xi Zeng, Ruijiang Han, Young Eun Huh, Jiajie Peng
    npj Parkinson's Disease.2024;[Epub]     CrossRef
  • Investigation of the Long-Term Effects of Amantadine Use in Parkinson’s Disease
    Sangmin Park, Jung Hwan Shin, Seung Ho Jeon, Chan Young Lee, Han-Joon Kim, Beomseok Jeon
    Journal of Movement Disorders.2023; 16(2): 224.     CrossRef
  • Polypharmazie bei der Behandlung von Parkinsonsymptomen: eine Nutzen-Risiko Abwägung
    J. Bedarf, I. Csoti, H. Herbst, P. Urban, D. Woitalla, U. Wüllner
    DGNeurologie.2023; 6(6): 504.     CrossRef
  • Role of glutamate receptor complex in the organism. Ligands of NMDA receptors in neurodegenerative processes – a modern state of the problem
    Vladimir D. Dergachev, Ekaterina E. Yakovleva, Eugenii R. Bychkov, Levon B. Piotrovskiy, Petr D. Shabanov
    Reviews on Clinical Pharmacology and Drug Therapy.2022; 20(1): 17.     CrossRef
  • Effect of glycine transporter 1 inhibition with bitopertin on parkinsonism and L-DOPA induced dyskinesia in the 6-OHDA-lesioned rat
    Imane Frouni, Woojin Kang, Dominique Bédard, Sébastien Belliveau, Cynthia Kwan, Shadi Hadj-Youssef, Élodie Bourgeois-Cayer, Leanne Ohlund, Lekha Sleno, Adjia Hamadjida, Philippe Huot
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    E.A. Katunina
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    Michał Hutny, Jagoda Hofman, Aleksandra Klimkowicz-Mrowiec, Agnieszka Gorzkowska
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    Sohaila AlShimemeri, Susan H Fox, Naomi P Visanji
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    Michelle Ann C. Sy, Hubert H. Fernandez
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    Jing Liu, Fei Xu, Zhiyan Nie, Lei Shao
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Letter to the editor
Article image
Metronidazole-Induced Craniocervical Myoclonus with Reversible Bilateral Dentate Nucleus Lesions
Hyun Chang Lee, Young Eun Kim, Hyeo-Il Ma
J Mov Disord. 2017;10(1):67-68.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16021
  • 12,685 View
  • 121 Download
  • 2 Web of Science
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PDF

Citations

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  • Metronidazole-induced encephalopathy: a systematic review
    Caspar Godthaab Sørensen, William Kristian Karlsson, Faisal Mohammad Amin, Mette Lindelof
    Journal of Neurology.2020; 267(1): 1.     CrossRef
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    Abdolmajid Omrani, Mohammad Rohani, Sareh Hosseinpour, Ali Reza Tavasoli
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Original Article
Article image
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
  • 21,870 View
  • 235 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

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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
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Review Article
Article image
Genetics of Progressive Supranuclear Palsy
Sun Young Im, Young Eun Kim, Yun Joong Kim
J Mov Disord. 2015;8(3):122-129.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15033
  • 28,728 View
  • 398 Download
  • 42 Web of Science
  • 38 Crossref
AbstractAbstract PDF
Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.

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Case Report
Article image
Amantadine Induced Corneal Edema in a Patient with Primary Progressive Freezing of Gait
Young Eun Kim, Ji Young Yun, Hui-Jun Yang, Han-Joon Kim, Mee Kum Kim, Won Ryang Wee, Beom S. Jeon
J Mov Disord. 2013;6(2):34-36.   Published online October 30, 2013
DOI: https://doi.org/10.14802/jmd.13008
  • 19,066 View
  • 79 Download
  • 8 Crossref
AbstractAbstract PDF

Amantadine is commonly used for Parkinsonism. However amantadine can induce adverse corneal reaction. Here we report a patient with primary progressive freezing of gait who had severe corneal edema associated with amantadine, which was reversible after discontinuation of the amantadine. This report alerts neurologists for this reversible but potentially critical corneal edema in patients with Parkinsonism who are receiving amantadine.

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