Journal of Movement Disorders

Beom Seok Jeon

4 Articles

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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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
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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
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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
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Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
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Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration
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Atypical Pantothenate Kinase-Associated Neurodegeneration with variable phenotypes in an Egyptian family
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Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
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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
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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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Dural Arteriovenous Fistula-Associated Reversible Parkinsonism with Presynaptic Dopaminergic Loss: Hang Rai Kim, Jee-Young Lee, Yu Kyeong Kim, Hyeyoung Park, Han-Joon Kim, Young-Je Son, Beom Seok Jeon; J Mov Disord. 2015;8(3):141-143. Published online September 10, 2015; DOI: https://doi.org/10.14802/jmd.15021

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The Sudden Onset of Pure Parkinsonism Caused by Intracranial Dural Arteriovenous Fistulas
Hitoshi Kawasaki, Risa Okuda, Ryu Yokoyama, Toshimasa Yamamoto
Internal Medicine.2022; 61(7): 1059. CrossRef
Reversible Parkinsonism and Rapidly Progressive Dementia Due to Dural Arteriovenous Fistula: Case Series and Literature Review
Joshua Lai, Manraj K.S. Heran, A. Jon Stoessl, Peter A. Gooderham
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Dementia and Parkinsonism-a Rare Presentation of Intracranial Dural Arteriovenous Fistulae
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Maladaptive Reward-Learning and Impulse Control Disorders in Patients with Parkinson’s Disease: A Clinical Overview and Pathophysiology Update: Jee-Young Lee, Beom Seok Jeon; J Mov Disord. 2014;7(2):67-76. Published online October 30, 2014; DOI: https://doi.org/10.14802/jmd.14010

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Abstract PDF

Impulse control disorders (ICD) in Parkinson’s disease (PD) are a disabling non-motor symptom with frequencies of 13–35% among patients receiving dopamine replacement therapy. ICD in PD is strongly associated with dopaminergic drug use, especially non-ergot dopamine agonists (DA). However, individual susceptibility and disease-related neural changes are also important contributors to the development of ICD. Discrepancies between nigrostriatal and mesolimbic dopaminergic degeneration and non-physiological administration of dopaminergic drugs may induce abnormal ’hyperstimulation’ of the mesolimbic system, which alters reward-learning behaviors in PD patients. In addition, DA can make patients more impulsive during decision-making and seek risk-taking behaviors. DA intake is also related to the biased representation of rewards. Ultimately, loss of negative feedback control due to dysfunctional frontostriatal connections is necessary for the establishment of ICD in PD. The subsequent behavioral and neural changes are affected by PD treatment and disease progression; thus, proper treatment guidelines for physicians are needed to prevent the development of ICD. Future studies aimed at producing novel therapeutics to control the risk factors for ICD or treat ICD behaviors in PD are warranted. This review summarizes recent advances from epidemiological and pathophysiological studies on ICD in PD. Management principles and limitations of current therapeutics are briefly discussed.

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Behavioural and trait changes in parkinsonian patients with impulse control disorder after switching from dopamine agonist to levodopa therapy: results of REIN-PD trial
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Patients’ Reluctance to undergo Deep Brain Stimulation for Parkinson’s Disease
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A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction: Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon; J Mov Disord. 2009;2(2):91-94.; DOI: https://doi.org/10.14802/jmd.09025

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Abstract PDF

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

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