Journal of Movement Disorders

Jae-Hyeok Lee

9 Articles

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism: Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee; J Mov Disord. 2024;17(3):339-341. Published online March 27, 2024; DOI: https://doi.org/10.14802/jmd.23275

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Evaluating the Validity and Reliability of the Korean Version of the Scales for Outcomes in Parkinson’s Disease–Cognition: 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; J Mov Disord. 2024;17(3):328-332. Published online April 3, 2024; DOI: https://doi.org/10.14802/jmd.24061

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Abstract PDF Supplementary 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.

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

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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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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

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene: Jae-Hyeok Lee, Jin-Hong Shin; J Mov Disord. 2022;15(2):171-174. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21143

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Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa₂EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.

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Magnetic Resonance Imaging and Manganism: A Narrative Review and Laboratory Recommendations
Michal Majewski, Karolina Piwko, Michal Ordak, Elzbieta Muszynska, Tadeusz Nasierowski, Magdalena Bujalska-Zadrozny
Journal of Clinical Medicine.2024; 13(10): 2823. CrossRef
Recent progress toward understanding the role of ZIP14 in regulating systemic manganese homeostasis
Shannon McCabe, Kirsten Limesand, Ningning Zhao
Computational and Structural Biotechnology Journal.2023; 21: 2332. CrossRef
Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation
Qingli Liu, Supak Jenkitkasemwong, Tamanna Afrin Prami, Shannon Morgan McCabe, Ningning Zhao, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
Journal of Biological Chemistry.2023; 299(8): 105078. CrossRef
Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nent
Disease Models & Mechanisms.2022;[Epub] CrossRef
Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
Alexander N. Rodichkin, Tomás R. Guilarte
International Journal of Molecular Sciences.2022; 23(21): 12833. CrossRef
Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism
Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
NeuroToxicology.2022; 93: 92. CrossRef
Mechanisms of manganese-induced neurotoxicity and the pursuit of neurotherapeutic strategies
Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
Frontiers in Pharmacology.2022;[Epub] CrossRef

Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family: Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee; J Mov Disord. 2020;13(3):244-246. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20064

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A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias
Mehri Salari, Masoud Etemadifar, Ronak Rashedi, Sayna Mardani
The Cerebellum.2023; 23(2): 702. CrossRef

Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic: 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; J Mov Disord. 2017;10(1):29-34. Published online January 18, 2017; DOI: https://doi.org/10.14802/jmd.16057

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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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Baseline prevalence and longitudinal assessment of autonomic dysfunction in early Parkinson’s disease
Lanqing Yang, Huan Gao, Min Ye
Journal of Neural Transmission.2024; 131(2): 127. CrossRef
Association Between Gait and Dysautonomia in Patients With De Novo Parkinson’s Disease: Forward Gait Versus Backward Gait
Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon
Journal of Movement Disorders.2023; 16(1): 59. CrossRef
Beyond shallow feelings of complex affect: Non-motor correlates of subjective emotional experience in Parkinson’s disease
Claudia Carricarte Naranjo, Claudia Sánchez Luaces, Ivonne Pedroso Ibáñez, Andrés Machado, Hichem Sahli, María Antonieta Bobes, Vincenzo De Luca
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Si-Chun Gu, Rong Shi, Chen Gao, Xiao-Lei Yuan, You Wu, Zhen-Guo Liu, Chang-De Wang, Shao-Rong Zhao, Xiqun Chen, Can-Xing Yuan, Qing Ye
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Clinical manifestation of patients with isolated rapid eye movement sleep behavior disorder after modest-to-long disease duration
Jung Kyung Hong, Jong-Min Kim, Ki-woong Kim, Ji Won Han, Soyeon Ahn, In-Young Yoon
Sleep.2022;[Epub] CrossRef
Associations of cognitive dysfunction with motor and non-motor symptoms in patients with de novo Parkinson’s disease
Kyum-Yil Kwon, Suyeon Park, Rae On Kim, Eun Ji Lee, Mina Lee
Scientific Reports.2022;[Epub] CrossRef
Autonomic dysfunction in Parkinson's disease: Results from the Faroese Parkinson's disease cohort
Aksel Berg, Sára Bech, Jan Aasly, Matthew J. Farrer, Maria Skaalum Petersen
Neuroscience Letters.2022; 785: 136789. CrossRef
Prevalence of lower urinary tract symptoms, urinary incontinence and retention in Parkinson's disease: A systematic review and meta-analysis
Fang-Fei Li, Yu-Sha Cui, Rui Yan, Shuang-Shuang Cao, Tao Feng
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
White matter tract-specific microstructural disruption is associated with depressive symptoms in isolated RBD
Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
NeuroImage: Clinical.2022; 36: 103186. CrossRef
Comparison of disease progression between brain-predominant Parkinson's disease versus Parkinson's disease with body-involvement phenotypes
Dong-Woo Ryu, Sang-Won Yoo, Yoon-Sang Oh, Kwang-Soo Lee, Seunggyun Ha, Joong-Seok Kim
Neurobiology of Disease.2022; 174: 105883. CrossRef
Corneal confocal microscopy differentiates patients with Parkinson’s disease with and without autonomic involvement
Ning-Ning Che, Shuai Chen, Qiu-Huan Jiang, Si-Yuan Chen, Zhen-Xiang Zhao, Xue Li, Rayaz A. Malik, Jian-Jun Ma, Hong-Qi Yang
npj Parkinson's Disease.2022;[Epub] CrossRef
Association of Nucleus Basalis of Meynert Functional Connectivity and Cognition in Idiopathic Rapid-Eye-Movement Sleep Behavior Disorder
Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Carlos H. Schenck, Sang Kun Lee, Ki-Young Jung
Journal of Clinical Neurology.2022; 18(5): 562. CrossRef
White Matter Tract-Specific Microstructural Disruption is Associated with Depressive Symptoms in Isolated Rbd
Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
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Altered insular functional connectivity in isolated REM sleep behavior disorder: a data-driven functional MRI study
Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jangsup Moon, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Man-Ho Kim, Han-Joon Kim, Won Chul Shin, Sang Kun Lee, Ki-Young Jung
Sleep Medicine.2021; 79: 88. CrossRef
Association of fall risk factors and non-motor symptoms in patients with early Parkinson’s disease
Kyum-Yil Kwon, Suyeon Park, Eun Ji Lee, Mina Lee, Hyunjin Ju
Scientific Reports.2021;[Epub] CrossRef
Impact of motor subtype on non‐motor symptoms and fall‐related features in patients with early Parkinson's disease
Kyum‐Yil Kwon, Eun Ji Lee, Mina Lee, Hyunjin Ju, Kayeong Im
Geriatrics & Gerontology International.2021; 21(5): 416. CrossRef
Extra-basal ganglia iron content and non-motor symptoms in drug-naïve, early Parkinson’s disease
Minkyeong Kim, Seulki Yoo, Doyeon Kim, Jin Whan Cho, Ji Sun Kim, Jong Hyun Ahn, Jun Kyu Mun, Inyoung Choi, Seung-Kyun Lee, Jinyoung Youn
Neurological Sciences.2021; 42(12): 5297. CrossRef
Clinical Assessment Scales in Autonomic Nervous System Disorders
Eun Bin Cho, Ki-Jong Park
Journal of the Korean Neurological Association.2021; 39(2 Suppl): 60. CrossRef
Cardiac sympathetic burden reflects Parkinson disease burden, regardless of high or low orthostatic blood pressure changes
Sang-Won Yoo, Joong-Seok Kim, Yoon-Sang Oh, Dong-Woo Ryu, Seunggyun Ha, Ji-Yeon Yoo, Kwang-Soo Lee
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Understanding fatigue in progressive supranuclear palsy
Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
Scientific Reports.2021;[Epub] CrossRef
Validation of the Korean version of the composite autonomic symptom scale 31 in patients with Parkinson’s disease
Jong Hyeon Ahn, Jin Myoung Seok, Jongkyu Park, Heejeong Jeong, Younsoo Kim, Joomee Song, Inyoung Choi, Jin Whan Cho, Ju-Hong Min, Byoung Joon Kim, Jinyoung Youn, Antonina Luca
PLOS ONE.2021; 16(10): e0258897. CrossRef
Cardiac Autonomic Dysfunction Is Associated with Severity of REM Sleep without Atonia in Isolated REM Sleep Behavior Disorder
Sooyeoun You, Kyoung Sook Won, Keun Tae Kim, Hyang Woon Lee, Yong Won Cho
Journal of Clinical Medicine.2021; 10(22): 5414. CrossRef
Characteristics of Autonomic Dysfunction in Parkinson’s Disease: A Large Chinese Multicenter Cohort Study
Zhou Zhou, Xiaoting Zhou, Xiaoxia Zhou, Yaqin Xiang, Liping Zhu, Lixia Qin, Yige Wang, Hongxu Pan, Yuwen Zhao, Qiying Sun, Qian Xu, Xinyin Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Zhenhua Liu
Frontiers in Aging Neuroscience.2021;[Epub] CrossRef
Autonomic Dysfunction in Parkinson's Disease: Results from the Faroese Parkinson's Disease Cohort
Aksel Kambsskarð Berg, Sára Bech, Jan O. Aasly, Matthew J. Farrer, Maria Skaalum Petersen
SSRN Electronic Journal .2021;[Epub] CrossRef
Subtypes of Sleep Disturbance in Parkinson's Disease Based on the Cross-Culturally Validated Korean Version of Parkinson's Disease Sleep Scale-2
Hui-Jun Yang, Han-Joon Kim, Seong-Beom Koh, Joong-Seok Kim, Tae-Beom Ahn, Sang-Myung Cheon, Jin Whan Cho, Yoon-Joong Kim, Hyeo-Il Ma, Mee Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, In-Uk Song, Ji-Young Kim, Young-Hee Sung, Do You
Journal of Clinical Neurology.2020; 16(1): 66. CrossRef
Risk Factors for Falls in Patients with de novo Parkinson’s Disease: A Focus on Motor and Non-Motor Symptoms
Kyum-Yil Kwon, Mina Lee, Hyunjin Ju, Kayeong Im
Journal of Movement Disorders.2020; 13(2): 142. CrossRef
Peripheral Blood Inflammatory Cytokines in Idiopathic REM Sleep Behavior Disorder
Ryul Kim, Jin‐Sun Jun, Han‐Joon Kim, Ki‐Young Jung, Yong‐Won Shin, Tae‐Won Yang, Keun Tae Kim, Tae‐Joon Kim, Jung‐Ick Byun, Jun‐Sang Sunwoo, Beomseok Jeon
Movement Disorders.2019; 34(11): 1739. CrossRef
Urinary Dysfunctions and Post-Void Residual Urine in Typical and Atypical Parkinson Diseases
Yang-Hyun Lee, Jee-Eun Lee, Dong-Woo Ryu, Yoon-Sang Oh, Kwang-Soo Lee, Sung-Hoo Hong, Joong-Seok Kim
Journal of Parkinson's Disease.2018; 8(1): 145. CrossRef
Rasch Analysis of the Clinimetric Properties of the Korean Dizziness Handicap Inventory in Patients with Parkinson Disease
Da-Young Lee, Hui-Jun Yang, Dong-Seok Yang, Jin-Hyuk Choi, Byoung-Soo Park, Ji-Yun Park
Research in Vestibular Science.2018; 17(4): 152. CrossRef
Clinical Characteristics of Parkinson’s Disease Developed from Essential Tremor
Dong-Woo Ryu, Si-Hoon Lee, Yoon-Sang Oh, Jae-Young An, Jeong-Wook Park, In-Uk Song, Kwang-Soo Lee, Joong-Seok Kim
Journal of Parkinson's Disease.2017; 7(2): 369. 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

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Abstract PDF Supplementary 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
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
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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
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Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
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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
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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
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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
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
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Putaminal Hypointensity in the Parkinsonian Variant of Multiple System Atrophy: Simple Visual Assessment Using Susceptibility-Weighted Imaging: Jae-Hyeok Lee, Seung-Kug Baik; J Mov Disord. 2011;4(2):60-63.; DOI: https://doi.org/10.14802/jmd.11012

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Abstract PDF

Background and Purpose

Susceptibility-weighted imaging (SWI) has been shown to be superior in its ability to demonstrate brain mineralization than other conventional MR imaging. The goal of our study was therefore to assess the frequency and extent of putaminal hypointensity in parkinsonian variant MSA using SWI.

Methods

11 patients with multiple system atrophy-parkinsonian type (MSA-p), 30 patients with Parkinson’s disease (PD), and age matched 30 controls were investigated using 3 Tesla MRI. The pattern of putaminal hypointensity was measured using a visual grading scale and scored from 0 to 3.

Results

Hemi- or bilateral putaminal hypointensity (a score of ≥ 2) and hyperintense rim were recognized in 81.8% and 54.5% of 11 MSA-p, respectively. The scores of putaminal hypointensity of MSA-p were significantly higher than other groups (p < 0.001), a score of ≥ 2 differentiated MSA-p from other groups. And all five patients with early disease stage also showed these characteristic findings.

Conclusions

SWI appears to be useful for depicting putaminal hypointensity even in early stage of MSA-p. This finding suggests that iron deposition associated putaminal degeneration can occur early in the disease process.

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Disabling Head Tremor in a Patient with DYT1 Mutation: Jae-Hyeok Lee, Dae-Seong Kim, Jae-Wook Cho, Kyung-Pil Park; J Mov Disord. 2009;2(2):86-87.; DOI: https://doi.org/10.14802/jmd.09023

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Abstract PDF

Dystonic head tremor is known to be a feature in some patients with DYT1 mutation. However, isolated tremor of the head without relevant cervical dystonia has rarely been described. We report here a patient with the three-bp GAG deletion in the DYT1 gene (904_906delGAG) who had severe head tremor in the frame of a generalized limb dystonia.

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