Journal of Movement Disorders

Absence of alpha-synuclein aggregation in the patient with Parkinson’s disease complicated by sigmoid volvulus: Dallah Yoo, Jae Young Joo, Sung-Hye Park, Sun Jin Park, Tae-Beom Ahn; Received September 5, 2023 Accepted November 1, 2023 Published online November 2, 2023; DOI: https://doi.org/10.14802/jmd.23173 [Accepted]

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A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity: Taewoo Kim, Su Hyeon Ha, Dallah Yoo, Kyung Sun Park, Tae-Beom Ahn; J Mov Disord. 2023;16(3):339-342. Published online July 24, 2023; DOI: https://doi.org/10.14802/jmd.23085

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Gravitational syncope induced by rising elevators in a Parkinson’s disease patient: Sun-Woo Sohn, Dallah Yoo, Tae-Beom Ahn; J Mov Disord. 2023;16(3):331-332. Published online June 9, 2023; DOI: https://doi.org/10.14802/jmd.23076

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Wall-Eyed Bilateral Internuclear Ophthalmoplegia Syndrome in a Patient With Progressive Supranuclear Palsy: A Case Report and Literature Review: Aryun Kim, Yu Jin Jung, Dallah Yoo, Chaewon Shin, Seong-Hae Jeong; J Mov Disord. 2023;16(2):227-230. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22056

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Re: Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”: Dallah Yoo, Tae-Beom Ahn; J Mov Disord. 2022;15(2):189-189. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.22049

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Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis: Jae Young Joo, Dallah Yoo, Tae-Beom Ahn; J Mov Disord. 2022;15(1):66-70. Published online November 25, 2021; DOI: https://doi.org/10.14802/jmd.21115

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Movement disorders associated with glial fibrillary acidic protein (GFAP) autoantibodies have rarely been reported as ataxia or tremors. A 32-year-old man with headache and fever, initially diagnosed with viral meningoencephalitis, showed gradual improvement with empirical treatment. Two weeks after the illness, he suddenly developed orofacial, tongue, and neck dyskinesia accompanied by oculomotor abnormalities, which developed into severe generalized choreoballism. Brain magnetic resonance imaging (fluid-attenuated inversion recovery) showed signal hyperintensities in the bilateral globus pallidus interna. The clinical picture suggested an acute inflammatory trigger of secondary autoimmune encephalitis. The autoimmune antibody test was positive for GFAP, with the strongest reactivity in the cerebrospinal fluid (CSF) before treatment and decreased reactivity in serial CSF examinations during immunotherapy. Dyskinesia gradually improved to the extent that it could be controlled with only oral medications. This patient presented with parainfectious GFAP meningoencephalitis with distinctive clinical features and imaging findings.

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Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”
Byoung June Ahn, Kyum-Yil Kwon
Journal of Movement Disorders.2022; 15(2): 187. CrossRef
Re: Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”
Dallah Yoo, Tae-Beom Ahn
Journal of Movement Disorders.2022; 15(2): 189. CrossRef

Investigation of Nocturnal Hypokinesia and Health-Related Quality of Life in Parkinsonian Patients with the Korean Version of the Nocturnal Hypokinesia Questionnaire: Ji-Hyun Choi, Jee-Young Lee, Chaewon Shin, Dallah Yoo, Jin Hee Im, Kyung Ah Woo, Han-Joon Kim, Tae-Beom Ahn, Jong-Min Kim, Beomseok Jeon; J Mov Disord. 2021;14(3):221-225. Published online May 26, 2021; DOI: https://doi.org/10.14802/jmd.20172

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Objective
To assess nocturnal hypokinesia using the Korean version of the Nocturnal Hypokinesia Questionnaire (NHQ-K) in Parkinson’s disease (PD) patients across disease stages.
Methods
We developed the NHQ-K and performed questionnaire-based interviews with 108 PD patients from three referral hospitals. Clinical associations of nocturnal hypokinesia and its impact on health-related quality of life (HRQoL) were also analyzed.
Results
The NHQ-K showed acceptable internal consistency (0.83) and interrater reliability (0.95). Nocturnal hypokinesia significantly affected HRQoL in PD patients at both the early and advanced stages (adjusted p < 0.001). Increased severity of nocturnal hypokinesia was associated with dyskinesias, off-period disability, apathy, and anxious mood in PD patients (adjusted p < 0.01) after controlling for disease severity and medication dose.
Conclusion
The NHQ-K is useful for screening nocturnal hypokinesia in PD patients. Given the high impact of nocturnal hypokinesia on HRQoL, comprehensive management of nocturnal disability is needed for PD patients.

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Technological evaluation of strategies to get out of bed by people with Parkinson's disease: Insights from multisite wearable sensors
Jirada Sringean, Chusak Thanawattano, Roongroj Bhidayasiri
Frontiers in Medical Technology.2022;[Epub] CrossRef

Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7: Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon; J Mov Disord. 2020;13(3):225-228. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20026

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F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism.

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Loss of the parkinsonism‐associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects
Jingbo Wang, Sabitha Joseph, Siv Vingill, Ekrem Dere, Lars Tatenhorst, Anja Ronnenberg, Paul Lingor, Christian Preisinger, Hannelore Ehrenreich, Jörg B. Schulz, Judith Stegmüller
Journal of Neurochemistry.2023; 167(2): 296. CrossRef
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
Journal of Movement Disorders.2022; 15(3): 269. CrossRef

A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C: Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon; J Mov Disord. 2020;13(2):163-165. Published online March 18, 2020; DOI: https://doi.org/10.14802/jmd.19077

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Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
Nikola Kresojević, Valerija Dobričić, Milica Ječmenica Lukić, Aleksandra Tomić, Igor Petrović, Nataša Dragašević, Ivana Perović, Ana Marjanović, Marija Branković, Milena Janković, Ivana Novaković, Marina Svetel, Vladimir S. Kostić
Journal of Neurology.2022; 269(6): 3167. CrossRef
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
Melanie Wu, Rita Ceponiene, Ece Bayram, Irene Litvan
Movement Disorders Clinical Practice.2020; 7(8): 961. CrossRef

Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation: Dallah Yoo, Han-Joon Kim, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2019;12(3):190-191. Published online July 17, 2019; DOI: https://doi.org/10.14802/jmd.19016

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A novel ANO3 variant in two siblings with different phenotypes
Marcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, Maria Cecilia D'Asdia, Federica Consoli, Alessandro De Luca
Parkinsonism & Related Disorders.2023; 111: 105413. CrossRef
Deep Brain Stimulation in Dystonia: Disentangling Heterogeneity
Alberto Albanese
Movement Disorders Clinical Practice.2021; 8(1): 6. 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
The expanding clinical and genetic spectrum of ANO3 dystonia
Li-Ting Jiang, Li-Xi Li, Ying Liu, Xiao-Long Zhang, You-Gui Pan, Lin Wang, Xin-Hua Wan, Ling-Jing Jin
Neuroscience Letters.2021; 746: 135590. CrossRef
Huntington disease-like phenotype in a patient with ANO3 mutation
Shahedah Koya Kutty, Eoin Mulroy, Francesca Magrinelli, Giulia Di Lazzaro, Anna Latorre, Kailash P. Bhatia
Parkinsonism & Related Disorders.2021; 90: 120. CrossRef
Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
Journal of Neural Transmission.2021; 128(4): 539. CrossRef

Spinal Myoclonus Responding to Continuous Intrathecal Morphine Pump: Jung-Eun Ahn, Dallah Yoo, Ki-Young Jung, Jong-Min Kim, Beomseok Jeon, Myung Chong Lee; J Mov Disord. 2017;10(3):158-160. Published online September 12, 2017; DOI: https://doi.org/10.14802/jmd.17023

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Spinal myoclonus is a sudden, brief, and involuntary movement of segmental or propriospinal muscle groups. Spinal myoclonus has occasionally been reported in patients undergoing opioid therapy, but the pathophysiology of opioid-induced myoclonus has not been elucidated yet. Here, we present two patients with spinal segmental myoclonus secondary to ischemic and radiation myelopathy. Conventional medications did not help treat persistent myoclonus in both legs. Continuous intrathecal morphine infusion was implanted for pain control in one patient, which relieved spinal myoclonus entirely. This experience led to the application of this method with a second patient, leading to the same gratifying result. Spinal myoclonus reemerged as soon as the morphine pumps were off, which confirmed the therapeutic role of opioids. In contrast to the opioid-induced myoclonus, these cases show a benefit of opioids on spinal myoclonus, which could be explained by synaptic reorganization after pathologic insults in the spinal cord.

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Spinal segmental myoclonus following spinal surgery
Shrikant Pande, Kokcher Ang, May Win Myat, Shermyn Neo, Sivashankar Subramaniam
British Journal of Neurosurgery.2023; 37(3): 393. CrossRef
Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Journal of Movement Disorders.2023; 16(1): 42. CrossRef
Myoclonus: An Electrophysiological Diagnosis
Shabbir Hussain I. Merchant, Felipe Vial‐Undurraga, Giorgio Leodori, Jay A. van Gerpen, Mark Hallett
Movement Disorders Clinical Practice.2020; 7(5): 489. CrossRef

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