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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
J Mov Disord. 2024;17(2):138-149.   Published online March 12, 2024
DOI: https://doi.org/10.14802/jmd.24040
  • 1,527 View
  • 76 Download
  • 2 Comments
PDF
Original Article
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
  • 2,796 View
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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
Review Articles
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
J Mov Disord. 2023;16(3):231-247.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23065
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AbstractAbstract PDFSupplementary Material
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Historical and More Common Nongenetic Movement Disorders From Asia
Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin
J Mov Disord. 2023;16(3):248-260.   Published online June 9, 2023
DOI: https://doi.org/10.14802/jmd.22224
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AbstractAbstract PDFSupplementary Material
Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

Citations

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  • Diabetic striatopathy and other acute onset de novo movement disorders in hyperglycemia
    Subhankar Chatterjee, Ritwik Ghosh, Payel Biswas, Shambaditya Das, Samya Sengupta, Souvik Dubey, Biman Kanti Ray, Alak Pandit, Julián Benito-León, Rana Bhattacharjee
    Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2024; 18(3): 102997.     CrossRef
Letters to the editor
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
J Mov Disord. 2023;16(2):224-226.   Published online May 24, 2023
DOI: https://doi.org/10.14802/jmd.23037
  • 1,501 View
  • 66 Download
PDFSupplementary Material
Absence of Alpha-Synuclein Pathology in the Stomach of a Patient With Prodromal Dementia With Lewy Bodies
Chaewon Shin, Seong-Ik Kim, Sung-Hye Park, Jung Hwan Shin, Chan Young Lee, Han-Joon Kim, Hyuk-Joon Lee, Seong-Ho Kong, Yun-Suhk Suh, Han-Kwang Yang, Beomseok Jeon
J Mov Disord. 2023;16(2):213-216.   Published online April 26, 2023
DOI: https://doi.org/10.14802/jmd.22219
  • 1,142 View
  • 62 Download
PDFSupplementary Material
Viewpoint
Challenges in Parkinson’s Disease Care—In Light of the COVID-19 Pandemic
Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2023;16(1):52-54.   Published online November 10, 2022
DOI: https://doi.org/10.14802/jmd.22085
  • 2,259 View
  • 82 Download
  • 1 Web of Science
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Citations

Citations to this article as recorded by  
  • Efficacy of telerehabilitation with digital and robotic tools for the continuity of care of people with chronic neurological disorders: The TELENEURO@REHAB protocol for a randomized controlled trial
    Federica Rossetto, Fabiola Giovanna Mestanza Mattos, Elisa Gervasoni, Marco Germanotta, Arianna Pavan, Davide Cattaneo, Irene Aprile, Francesca Baglio
    DIGITAL HEALTH.2024;[Epub]     CrossRef
Brief communication
Sensitivity of Detecting Alpha-Synuclein Accumulation in the Gastrointestinal Tract and Tissue Volume Examined
Chaewon Shin, Seong-Ik Kim, Sung-Hye Park, Jung Hwan Shin, Chan Young Lee, Han-Kwang Yang, Hyuk-Joon Lee, Seong-Ho Kong, Yun-Suhk Suh, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2022;15(3):264-268.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22042
  • 2,985 View
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  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
This study aimed to evaluate whether a larger tissue volume increases the sensitivity of detecting alpha-synuclein (AS) pathology in the gastrointestinal (GI) tract.
Methods
Nine patients with Parkinson’s disease (PD) or idiopathic rapid eye movement sleep disorder (iRBD) who underwent GI operation and had full-depth intestinal blocks were included. All patients were selected from our previous study population. A total of 10 slides (5 serial sections from the proximal and distal blocks) per patient were analyzed.
Results
In previous studies, pathologic evaluation revealed phosphorylated AS (+) in 5/9 patients (55.6%) and in 1/5 controls (20.0%); in this extensive examination, this increased to 8/9 patients (88.9%) but remained the same in controls (20.0%). The severity and distribution of positive findings were similar between patients with iRBD and PD.
Conclusion
Examining a large tissue volume increased the sensitivity of detecting AS accumulation in the GI tract.

Citations

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  • Symmetric and Profound Monoaminergic Degeneration in Parkinson’s Disease with Premotor REM Sleep Behavior Disorder
    Kyung Ah Woo, Han-Joon Kim, Jung Hwan Shin, Kangyoung Cho, Hongyoon Choi, Beomseok Jeon
    Journal of Parkinson's Disease.2024; 14(4): 823.     CrossRef
Original Articles
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
J Mov Disord. 2022;15(3):241-248.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22002
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AbstractAbstract PDFSupplementary Material
Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.

Citations

Citations to this article as recorded by  
  • Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review
    Lindsey M. Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J. Lizarraga, Angela L. Hewitt, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky
    Annals of Neurology.2024; 95(1): 156.     CrossRef
  • Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia
    Luigi M. Romito, Fabiana Colucci, Giovanna Zorzi, Barbara Garavaglia, Ahmet Kaymak, Alberto Mazzoni, Celeste Panteghini, Nico Golfrè Andreasi, Sara Rinaldo, Vincenzo Levi, Miryam Carecchio, Roberto Eleopra
    Parkinsonism & Related Disorders.2024; 123: 106977.     CrossRef
  • Case of Hallervorden–Spatz Syndrome: A Tale of Twin Sisters
    Naveen Reddy, Jitender Sharma, Anmol Sharma
    Neurology India.2024; 72(2): 411.     CrossRef
  • Surgical treatment of movement disorders in neurometabolic conditions
    Alonso Zea Vera, Andrea L. Gropman
    Frontiers in Neurology.2023;[Epub]     CrossRef
Semiautomated Algorithm for the Diagnosis of Multiple System Atrophy With Predominant Parkinsonism
Woong-Woo Lee, Han-Joon Kim, Hong Ji Lee, Han Byul Kim, Kwang Suk Park, Chul-Ho Sohn, Beomseok Jeon
J Mov Disord. 2022;15(3):232-240.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.21178
  • 2,670 View
  • 119 Download
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AbstractAbstract PDFSupplementary Material
Objective
Putaminal iron deposition is an important feature that helps differentiate multiple system atrophy with predominant parkinsonism (MSA-p) from Parkinson’s disease (PD). Most previous studies used visual inspection or quantitative methods with manual manipulation to perform this differentiation. We investigated the value of a new semiautomated diagnostic algorithm using 3T-MR susceptibility-weighted imaging for MSA-p.
Methods
This study included 26 MSA-p, 68 PD, and 41 normal control (NC) subjects. The algorithm was developed in 2 steps: 1) determine the image containing the remarkable putaminal margin and 2) calculate the phase-shift values, which reflect the iron concentration. The next step was to identify the best differentiating conditions among several combinations. The highest phaseshift value of each subject was used to assess the most effective diagnostic set.
Results
The raw phase-shift values were present along the lateral margin of the putamen in each group. It demonstrates an anterior- to-posterior gradient that was identified most frequently in MSA-p. The average of anterior 5 phase shift values were used for normalization. The highest area under the receiver operating characteristic curve (0.874, 80.8% sensitivity, and 86.7% specificity) of MSA-p versus PD was obtained under the combination of 3 or 4 vertical pixels and one dominant side when the normalization methods were applied. In the subanalysis for the MSA-p patients with a longer disease duration, the performance of the algorithm improved.
Conclusion
This algorithm detected the putaminal lateral margin well, provided insight into the iron distribution of the putaminal rim of MSA-p, and demonstrated good performance in differentiating MSA-p from PD.
Development of Clinical Milestones in Parkinson’s Disease After Bilateral Subthalamic Deep Brain Stimulation
Jed Noel A. Ong, Jung Hwan Shin, Seungho Jeon, Chan Young Lee, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon
J Mov Disord. 2022;15(2):124-131.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21106
  • 2,648 View
  • 141 Download
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AbstractAbstract PDFSupplementary Material
Objective
Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) patients does not halt disease progression, as these patients will progress and develop disabling non-levodopa responsive symptoms. These features may act as milestones that represent the overall functionality of patients after DBS. The objective of this study was to investigate the development of clinical milestones in advanced PD patients who underwent bilateral STN-DBS.
Methods
The study evaluated PD patients who underwent STN-DBS at baseline up to their last follow-up using the Unified Parkinson’s Disease Rating Scale and Hoehn and Yahr scale. The symptoms of hallucinations, dysarthria, dysphagia, frequent falls, difficulty walking, cognitive impairment and the loss of autonomy were chosen as the clinical milestones.
Results
A total of 106 patients with a mean age of 47.21 ± 10.52 years at disease onset, a mean age of 58.72 ± 8.74 years at surgery and a mean disease duration of 11.51 ± 4.4 years before surgery were included. Initial improvement of motor symptoms was seen after the surgery with the appearance of clinical milestones over time. Using the moderately disabling criteria, 81 patients (76.41%) developed at least one clinical milestone, while 48 patients (45.28%) developed a milestone when using the severely disabling criteria.
Conclusion
STN-DBS has a limited effect on axial and nonmotor symptoms of the PD patients, in contrast to the effect on motor symptoms. These symptoms may serve as clinical milestones that can convey the status of PD patients and its impact on the patients and their caregivers. Therefore, advanced PD patients, even those treated with bilateral STN-DBS, will still require assistance and cannot live independently in the long run.

Citations

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  • Unveiling the Impact of Outpatient Physiotherapy on Specific Motor Symptoms in Parkinson’s Disease: A Prospective Cohort Study
    Yuta Terasawa, Koki Ikuno, Shintaro Fujii, Yuki Nishi, Emi Tanizawa, Sachio Nabeshima, Yohei Okada
    Brain & Neurorehabilitation.2023;[Epub]     CrossRef
Brief communications
Automatic Measurement of Postural Abnormalities With a Pose Estimation Algorithm in Parkinson’s Disease
Jung Hwan Shin, Kyung Ah Woo, Chan Young Lee, Seung Ho Jeon, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2022;15(2):140-145.   Published online January 19, 2022
DOI: https://doi.org/10.14802/jmd.21129
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AbstractAbstract PDFSupplementary Material
Objective
This study aims to develop an automated and objective tool to evaluate postural abnormalities in Parkinson’s disease (PD) patients.
Methods
We applied a deep learning-based pose-estimation algorithm to lateral photos of prospectively enrolled PD patients (n = 28). We automatically measured the anterior flexion angle (AFA) and dropped head angle (DHA), which were validated with conventional manual labeling methods.
Results
The automatically measured DHA and AFA were in excellent agreement with manual labeling methods (intraclass correlation coefficient > 0.95) with mean bias equal to or less than 3 degrees.
Conclusion
The deep learning-based pose-estimation algorithm objectively measured postural abnormalities in PD patients.

Citations

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  • Botulinum Toxin for Axial Postural Abnormalities in Parkinson’s Disease: A Systematic Review
    Marialuisa Gandolfi, Carlo Alberto Artusi, Gabriele Imbalzano, Serena Camozzi, Mauro Crestani, Leonardo Lopiano, Michele Tinazzi, Christian Geroin
    Toxins.2024; 16(5): 228.     CrossRef
  • Three‐Dimensional Mesh Recovery from Common 2‐Dimensional Pictures for Automated Assessment of Body Posture in Camptocormia
    Robin Wolke, Olga Gavriliuc, Oliver Granert, Günther Deuschl, Nils G. Margraf
    Movement Disorders Clinical Practice.2023; 10(3): 472.     CrossRef
  • Assessment of Axial Postural Abnormalities in Parkinsonism: Automatic Picture Analysis Software
    Carlo Alberto Artusi, Christian Geroin, Gabriele Imbalzano, Serena Camozzi, Stefano Aldegheri, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
    Movement Disorders Clinical Practice.2023; 10(4): 636.     CrossRef
  • Camera- and Viewpoint-Agnostic Evaluation of Axial Postural Abnormalities in People with Parkinson’s Disease through Augmented Human Pose Estimation
    Stefano Aldegheri, Carlo Alberto Artusi, Serena Camozzi, Roberto Di Marco, Christian Geroin, Gabriele Imbalzano, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
    Sensors.2023; 23(6): 3193.     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
  • 4,427 View
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AbstractAbstract PDFSupplementary Material
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.

Citations

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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
Case Report
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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AbstractAbstract PDF
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.

Citations

Citations to this article as recorded by  
  • Global prevalence and incidence of Young Onset Parkinson’s disease: A systematic review and meta-analysis
    Fardin Nabizadeh, Homa Seyedmirzaei, Nazanin Rafiei, Seyedeh Maryam Vafaei, Dorsa Shekouh, Ehsan Mehrtabar, Ehsan Mirzaaghazadeh, Zahra Mirzaasgari
    Journal of Clinical Neuroscience.2024; 125: 59.     CrossRef
  • Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria
    Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q. McDonald, Veronika Chernuha, Orly Elpeleg, Massimo Zeviani, Roger A. Barker, Ronen Spiegel, Heike Laman
    The FEBS Journal.2024;[Epub]     CrossRef
  • 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
Letter to the editor
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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PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
    Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
    JIMD Reports.2024; 65(2): 85.     CrossRef
  • 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

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