Journal of Movement Disorders

Volume 13(2); May 2020

Review Articles

Long-Term Outcomes of Genetic Parkinson’s Disease: Jan O. Aasly; J Mov Disord. 2020;13(2):81-96. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.19080

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Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects 1–2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any known environmental or genetic causes. Since the late 1990s, mutations in the genes SNCA, PRKN, LRRK2, PINK1, DJ-1, VPS35, and GBA have been shown to be important risk factors for PD. In addition, common variants with small effect sizes are now recognized to modulate the risk for PD. Most studies in genetic PD have focused on finding new genes, but few have studied the long-term outcome of patients with the specific genetic PD forms. Patients with known genetic PD have now been followed for more than 20 years, and we see that they may have distinct and different prognoses. New therapeutic possibilities are emerging based on the genetic cause underlying the disease. Future medication may be based on the pathophysiology individualized to the patient’s genetic background. The challenge is to find the biological consequences of different genetic variants. In this review, the clinical patterns and long-term prognoses of the most common genetic PD variants are presented.

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Staging Parkinson’s Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life
Diego Santos-García, Teresa de Deus Fonticoba, Carlos Cores Bartolomé, Maria J. Feal Painceiras, Maria Cristina Íñiguez-Alvarado, Iago García Díaz, Silvia Jesús, Maria Teresa Buongiorno, Lluís Planellas, Marina Cosgaya, Juan García Caldentey, Nuria Caball
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To lump or to split? Deep brain stimulation may improve non-motor symptoms in certain Parkinson's disease subtypes
Neepa Patel
Parkinsonism & Related Disorders.2023; 109: 105369. CrossRef
Emerging Roles of Signal Transduction Pathways in Neurodegenerative Diseases. Hunting New Possible Therapeutic Molecular Targets
Vincenza Rita Lo Vasco
OBM Geriatrics.2023; 07(02): 1. CrossRef
PTEN-Induced Putative Kinase 1 Dysfunction Accelerates Synucleinopathy
Tinh Thi Nguyen, Yun Joong Kim, Thuy Thi Lai, Phuong Thi Nguyen, Young Ho Koh, Linh Thi Nhat Nguyen, Hyeo-il Ma, Young Eun Kim
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Oncogenic Pathways in Neurodegenerative Diseases
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International Journal of Molecular Sciences.2022; 23(6): 3223. CrossRef
Genetic Determinants of Survival in Parkinson's Disease in the Asian Population
Chunyu Li, Yanbing Hou, Ruwei Ou, Xiaojing Gu, Yongping Chen, Lingyu Zhang, Kuncheng Liu, Junyu Lin, Bei Cao, Qianqian Wei, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Yiyuan Cui, Huifang Shang
Movement Disorders.2022; 37(8): 1624. CrossRef
Obituary for Jan O. Aasly (1950–2022)
Matthew J. Farrer
Movement Disorders.2022; 37(9): 1783. CrossRef
Genetics in parkinson’s disease: From better disease understanding to machine learning based precision medicine
Mohamed Aborageh, Peter Krawitz, Holger Fröhlich
Frontiers in Molecular Medicine.2022;[Epub] CrossRef
Recent developments in nucleic acid-based therapies for Parkinson’s disease: Current status, clinical potential, and future strategies
Shivam Kumar Pandey, Rakesh Kumar Singh
Frontiers in Pharmacology.2022;[Epub] CrossRef
Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study
Daniel Weiss, Zied Landoulsi, Patrick May, Manu Sharma, Michael Schüpbach, Hana You, Jean Christophe Corvol, Steffen Paschen, Ann-Kristin Helmers, Michael Barbe, Gereon Fink, Andrea A. Kühn, Christine Brefel Courbon, Lars Wojtecki, Philippe Damier, Valeri
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Jan O. Aasly
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Increased Mortality in Young-Onset Parkinson’s Disease
Eldbjørg Hustad, Tor Åge Myklebust, Sasha Gulati, Jan O. Aasly
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Contributing Factors and Evolution of Impulse Control Disorder in the Luxembourg Parkinson Cohort
Sylvia Binck, Claire Pauly, Michel Vaillant, Geraldine Hipp, Manon Gantenbein, Rejko Krueger, Nico J Diederich
Frontiers in Neurology.2020;[Epub] CrossRef

Nutrition and Lifestyle Interventions for Managing Parkinson’s Disease: A Narrative Review: Tracy Lister; J Mov Disord. 2020;13(2):97-104. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20006

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Abstract PDF

The etiology of Parkinson’s disease (PD) is not fully understood, but environmental toxin overexposure, increased intestinal permeability, and dysbiosis related to nutrition and lifestyle habits are thought to be contributors. Considering these nutrition and lifestyle implications, there is a lack of practice-based programs utilizing interventions for managing symptoms or slowing the progression of the disease. The purpose of this narrative review was to identify relevant research related to nutrition and lifestyle interventions for PD, evaluate the research utilizing the evidence analysis process of the Academy of Nutrition and Dietetics to assess the quality of each research article, and group the research into categories. A grading of recommendations assessment, development and evaluation (GRADE) of either good, fair, limited, or not assignable was allocated to each category of research, including diet patterns, vitamin D, B-complex, omega-3 fatty acids, coenzyme Q10, probiotics, physical activity, stress, and sleep. An intervention based on the research presented in the review may be utilized for coaching people with PD on symptom management.

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Sigrid Ryeng Alnes, Ellisiv Lærum-Onsager, Asta Bye, Annette Vistven, Erika Franzén, Mette Holst, Therese Brovold
BMC Neurology.2023;[Epub] CrossRef
Association between smoking and all-cause mortality in Parkinson’s disease
Seo Yeon Yoon, You Hyun Park, Sang Chul Lee, Jee Hyun Suh, Seung Nam Yang, Dae Ryong Kang, Yong Wook Kim
npj Parkinson's Disease.2023;[Epub] CrossRef
Molecular insights into the pathogenic impact of vitamin D deficiency in neurological disorders
Md Jamir Anwar, Sattam Khulaif Alenezi, Ahmad Hamad Alhowail
Biomedicine & Pharmacotherapy.2023; 162: 114718. CrossRef
Effect of vitamin D and other indicators of phosphorus-calcium metabolism on cognitive functions and quality of life in patients with Parkinson's disease
D. A. Novotnyy, N. G. Zhukova, L. P. Shperling, V. A. Stolyarova, I. A. Zhukova, A. E. Agasheva, S. V. Shtaimets, O. A. Druzhinina, I. V. Shirokikh
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Do Naturally Occurring Antioxidants Protect Against Neurodegeneration of the Dopaminergic System? A Systematic Revision in Animal Models of Parkinson's Disease
Carmen Costas, Lilian R.F. Faro
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Laboratory prognostic factors for the long-term survival of multiple system atrophy
Jung Hwan Shin, Han-Joon Kim, Chan Young Lee, Hee Jin Chang, Kyung Ah Woo, Beomseok Jeon
npj Parkinson's Disease.2022;[Epub] CrossRef
Association Between Smoking and All-Cause Mortality in Parkinson's Disease
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COVID-19: An Early Review of Its Global Impact and Considerations for Parkinson’s Disease Patient Care: Roongroj Bhidayasiri, Sasivimol Virameteekul, Jong-Min Kim, Pramod Kr. Pal, Sun-Ju Chung; J Mov Disord. 2020;13(2):105-114. Published online April 30, 2020; DOI: https://doi.org/10.14802/jmd.20042

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Abstract PDF

While many infectious disorders are unknown to most neurologists, COVID-19 is very different. It has impacted neurologists and other health care workers, not only in our professional lives but also through the fear and panic within our own families, colleagues, patients and their families, and even in the wider public. COVID-19 affects all sorts of individuals, but the elderly with underlying chronic conditions are particularly at risk of severe disease, or even death. Parkinson’s disease (PD) shares a common profile as an age-dependent degenerative disorder, frequently associated with comorbidities, particularly cardiovascular diseases, so PD patients will almost certainly fall into the high-risk group. Therefore, the aim of this review is to explore the risk of COVID-19 in PD based on the susceptibility to severe disease, its impact on PD disease severity, potential long-term sequelae, and difficulties of PD management during this outbreak, where neurologists face various challenges on how we can maintain effective care for PD patients without exposing them, or ourselves, to the risk of infection. It is less than six months since the identification of the original COVID-19 case on New Year’s Eve 2019, so it is still too early to fully understand the natural history of COVID-19 and the evidence on COVID-19-related PD is scant. Though the possibilities presented are speculative, they are theory-based, and supported by prior evidence from other neurotrophic viruses closely related to SARS-CoV-2. Neurologists should be on high alert and vigilant for potential acute and chronic complications when encountering PD patients who are suspected of having COVID-19.

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Viewpoint

Future of Tanscranial Magnetic Stimulation in Movement Disorders: Introduction of Novel Methods: Yoshikazu Ugawa, Yasushi Shimo, Yasuo Terao; J Mov Disord. 2020;13(2):115-117. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19083

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Original Articles

The Non-Motor Symptom Profile of Progressive Supranuclear Palsy: Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(2):118-126. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19066

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Abstract PDF

Objective
Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) using the validated Non-Motor Symptom Scale (NMSS).
Methods
Seventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSP Rating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD) and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also compared between patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism.
Results
All subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domains of sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular including falls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D, PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RS reported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexual dysfunction.
Conclusion
NMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function are most commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attention to identifying and addressing these symptoms.

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Wen-Zheng Hu, Ling-Xiao Cao, Jin-Hui Yin, Xue-Song Zhao, Ying-Shan Piao, Wei-Hong Gu, Jing-Hong Ma, Zhi-Rong Wan, Yue Huang
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Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
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Joshua Flavell, Peter J. Nestor
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Demetris Pillas, Alexander Klein, Teresa Gasalla, Andreja Avbersek, Alexander Thompson, Jack Wright, Jennifer Mellor, Anna Scowcroft
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Fatigue in hypokinetic, hyperkinetic, and functional movement disorders
Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi
Parkinsonism & Related Disorders.2021; 86: 114. CrossRef
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Rachel Rohmann, Eva Kühn, Raphael Scherbaum, Lovis Hilker, Saskia Kools, Leonard Scholz, Katharina Müller, Sophie Huckemann, Christiane Schneider-Gold, Ralf Gold, Kalliopi Pitarokoili, Lars Tönges, Eun Hae Kwon
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Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
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Ján Necpál, Miroslav Borsek, Bibiána Jeleňová
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Duncan Street, Maura Malpetti, Timothy Rittman, Boyd C P Ghosh, Alexander G Murley, Ian Coyle-Gilchrist, Luca Passamonti, James B Rowe
Brain Communications.2021;[Epub] CrossRef

Long-term Effects of Bilateral Subthalamic Deep Brain Stimulation on Postural Instability and Gait Difficulty in Patients with Parkinson’s Disease: Hae-Won Shin, Mi Sun Kim, Sung Reul Kim, Sang Ryong Jeon, Sun Ju Chung; J Mov Disord. 2020;13(2):127-132. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.19081

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Objective
The long-term effects of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) on postural instability and gait difficulty (PIGD) in patients with Parkinson’s disease (PD) remain unclear. In this study, we aimed to evaluate the longterm effects of STN-DBS surgery on PIGD symptoms in patients with advanced-stage PD. Methods This study included 49 consecutively included patients with PD who underwent bilateral STN-DBS. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and subscores for PIGD were assessed at baseline and at 1, 3, and 5 years postoperatively. The PIGD subscore was divided into PIGD-motor and PIGD-activities of daily living (ADL) scores according to parts III and II of the UPDRS, respectively. Results The PIGD-motor and PIGD-ADL scores at the “medication-off” state improved at 3 and 5 years, respectively. Overall, the UPDRS III and II scores at “medication-off” improved at 5 years. The UPDRS IV score also significantly improved and the levodopa equivalent daily dosage decreased at all follow-ups. Finally, the PIGD-motor score at baseline was able to predict long-term improvement in the PIGD-motor score at the 5-year follow-up. Conclusion The STN-DBS has both short- and long-term effects on PIGD, as well as overall motor function, in patients with advanced PD. The degree of PIGD at the preoperative evaluation can be used to predict long-term outcomes after STN-DBS surgery.

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Long-term motor outcomes of deep brain stimulation of the globus pallidus interna in Parkinson's disease patients: Five-year follow-up
Yun Su Hwang, Sungyang Jo, Seung Hyun Lee, Nayoung Kim, Mi-Sun Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of the Neurological Sciences.2023; 444: 120484. CrossRef
Smartwatch gait coordination index: New measure for human gait utilizing smartwatch sensor
Sumin Han, Rob Paul
Medicine.2023; 102(12): e33267. CrossRef
The Role of Microelectrode Recording in Deep Brain Stimulation Surgery for Parkinson’s Disease: A Systematic Review and Meta-Analysis
R. Saman Vinke, Martin Geerlings, Ashok K. Selvaraj, Dejan Georgiev, Bastiaan R. Bloem, Rianne A.J. Esselink, Ronald H.M.A. Bartels
Journal of Parkinson's Disease.2022; 12(7): 2059. CrossRef
Axial impairment and falls in Parkinson’s disease: 15 years of subthalamic deep brain stimulation
Alessandro Zampogna, Francesco Cavallieri, Francesco Bove, Antonio Suppa, Anna Castrioto, Sara Meoni, Pierre Pélissier, Emmanuelle Schmitt, Amélie Bichon, Eugénie Lhommée, Andrea Kistner, Stephan Chabardès, Eric Seigneuret, Valerie Fraix, Elena Moro
npj Parkinson's Disease.2022;[Epub] CrossRef

Association between Olfactory Deficit and Motor and Cognitive Function in Parkinson’s Disease: Han Soo Yoo, Seok Jong Chung, Yang Hyun Lee, Byoung Seok Ye, Young H. Sohn, Phil Hyu Lee; J Mov Disord. 2020;13(2):133-141. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19082

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Objective
To investigate whether baseline olfactory dysfunction in Parkinson’s disease (PD) patients is associated with baseline and longitudinal motor and cognitive function.
Methods
We recruited 228 drug-naïve PD patients who were followed for a mean of 6 years. Patients underwent the Cross-Cultural Smell Identification Test (CCSIT), a neuropsychological test, and N-(3-[18F]fluoropropyl)-2β-carbomethoxy-3β-(4-iodophenyl) nortropane positron emission tomography within 6 months of the baseline evaluation. Olfactory dysfunction was categorized as normosmia (CCSIT score ≥ 9), hyposmia (CCSIT score 5–8), and anosmia (CCSIT score ≤ 4). During the follow-up period, we investigated changes in the levodopa-equivalent dose (LED) and the occurrence of wearing-off, levodopa-induced dyskinesia, and dementia.
Results
Among the PD patients, 80.7% were hyposmic at the time of diagnosis, and 26.1% were anosmic. Baseline olfactory dysfunction was not associated with either initial parkinsonian motor symptoms or with the longitudinal LED increment and motor complications. Meanwhile, the anosmic group had lower baseline scores on the Korea version of the Boston Naming Test and Stroop color reading test than the normosmic and hyposmic groups. The anosmic group exhibited a higher rate of conversion to dementia than the normosmic [adjusted hazard ratio (HR) 3.99, 95% confidence interval (CI) 1.08–14.72] and hyposmic (adjusted HR 2.48, 95% CI 1.15–5.32) PD groups, regardless of baseline motor deficits and cognitive status.
Conclusion
Baseline olfactory dysfunction was not associated with motor deficits and complications, but it was associated with cognitive dysfunction and prognosis, suggesting that severe olfactory impairment may reflect early cortical involvement, probably in the frontotemporal region, and rapid spreading of Lewy body pathology.

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Olfactory dysfunction is associated with motor function only in tremor-dominant Parkinson’s disease
Fardin Nabizadeh, Kasra Pirahesh, Elham Khalili
Neurological Sciences.2022; 43(7): 4193. CrossRef
Novel diagnostic tools for identifying cognitive impairment using olfactory-stimulated functional near-infrared spectroscopy: patient-level, single-group, diagnostic trial
Jaewon Kim, Dong Keon Yon, Kyu Yeong Choi, Jang Jae Lee, Namwoo Kim, Kun Ho Lee, Jae Gwan Kim
Alzheimer's Research & Therapy.2022;[Epub] CrossRef
The Role of Olfactory System in the Etiogenesis of Parkinson’s Diseases: An Overview
Jiju Narayanan Avanipully, Dithu Thekkekkara, Sahyadri M, Vipan K. Parihar, Santhepete Nanjundaiah Manjula
Journal of Pharmacology and Pharmacotherapeutics.2022; 13(1): 31. CrossRef
International consensus statement on allergy and rhinology: Olfaction
Zara M. Patel, Eric H. Holbrook, Justin H. Turner, Nithin D. Adappa, Mark W. Albers, Aytug Altundag, Simone Appenzeller, Richard M. Costanzo, Ilona Croy, Greg E. Davis, Puya Dehgani‐Mobaraki, Richard L. Doty, Valerie B. Duffy, Bradley J. Goldstein, David
International Forum of Allergy & Rhinology.2022; 12(4): 327. CrossRef
Does Olfactory Dysfunction Correlate with Disease Progression in Parkinson’s Disease? A Systematic Review of the Current Literature
Tommaso Ercoli, Carla Masala, Gianluca Cadeddu, Marcello Mario Mascia, Gianni Orofino, Angelo Fabio Gigante, Paolo Solla, Giovanni Defazio, Lorenzo Rocchi
Brain Sciences.2022; 12(5): 513. CrossRef
Olfactory dysfunction and striatal dopamine transporter binding in motor subtypes of Parkinson’s disease
Fardin Nabizadeh, Fatemeh Sodeifian, Kasra Pirahesh
Neurological Sciences.2022; 43(8): 4745. CrossRef
Olfaction and Executive Cognitive Performance: A Systematic Review
Vasudeva Murthy Challakere Ramaswamy, Peter William Schofield
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Nasal and Parotid Blood Pool Activity Is Significantly Correlated with Metabolic Syndrome Components and Sleep Apnea
William T. Phillips, Nasser J. Issa, Shereef B. Elhalwagi, Hilda T. Draeger, Joyce G. Schwartz, Jonathan A. Gelfond
Metabolic Syndrome and Related Disorders.2022; 20(7): 395. CrossRef
Chronic neuropsychiatric sequelae of SARS‐CoV‐2: Protocol and methods from the Alzheimer's Association Global Consortium
Gabriel A. de Erausquin, Heather Snyder, Traolach S. Brugha, Sudha Seshadri, Maria Carrillo, Rajesh Sagar, Yueqin Huang, Charles Newton, Carmela Tartaglia, Charlotte Teunissen, Krister Håkanson, Rufus Akinyemi, Kameshwar Prasad, Giovanni D'Avossa, Gabriel
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Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease
Joshua Harvey, Rick A. Reijnders, Rachel Cavill, Annelien Duits, Sebastian Köhler, Lars Eijssen, Bart P. F. Rutten, Gemma Shireby, Ali Torkamani, Byron Creese, Albert F. G. Leentjens, Katie Lunnon, Ehsan Pishva
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Impact of Subthalamic Deep Brain Stimulation on Hyposmia in Patients With Parkinson's Disease Is Influenced by Constipation and Dysbiosis of Microbiota
Chao Li, Ying Hou, Xu Wang, Yue-xuan Li, Feng Li, Chao Zhang, Wei-guo Li
Frontiers in Neurology.2021;[Epub] CrossRef
Hyposmia may predict development of freezing of gait in Parkinson’s disease
Jae Jung Lee, Jin Yong Hong, Jong Sam Baik
Journal of Neural Transmission.2021; 128(6): 763. CrossRef
Clinical and Dopamine Depletion Patterns in Hyposmia- and Dysautonomia-Dominant Parkinson’s Disease
Han Soo Yoo, Sangwon Lee, Seong Ho Jeong, Byoung Seok Ye, Young H. Sohn, Mijin Yun, Phil Hyu Lee
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Brief communications

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; J Mov Disord. 2020;13(2):142-145. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20009

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Abstract PDF

Objective
We aimed to identify risk factors for falls in patients with de novo Parkinson’s disease (PD). Methods Forty-six patients with de novo PD were retrospectively included in the study. We assessed details on the patients’ motor symptoms as well as non-motor symptoms using several representative scales for global cognition, depression, fatigue, and dysautonomia. Fallers and non-fallers were identified according to their history of falls during the preceding year. Results Twenty-two patients (45.8%) with de novo PD had a history of falls. Compared with the non-faller group, the faller group exhibited higher scores for postural instability/gait difficulty (PIGD), anxiety, fatigue, total dysautonomia, gastrointestinal dysfunction, and thermoregulatory dysfunction. Moreover, logistic regression analysis showed that falling was positively correlated with anxiety and gastrointestinal symptoms but negatively associated with the tremor scores. Conclusion Our findings suggest that falling in patients with de novo PD is significantly associated with PIGD/non-tremor symptoms, anxiety, and gastrointestinal dysfunction.

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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
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
Initial Vestibular Function May Be Associated with Future Postural Instability in Parkinson’s Disease
Jeong Ho Park, Min Seung Kim, Suk Yun Kang
Journal of Clinical Medicine.2022; 11(19): 5608. 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
Understanding the influence of pain and fatigue on physical performance, fear of falling and falls in people with Parkinson’s disease: a pilot study
Hanan Khalil, Nesreen Alissa, Alham Al-Sharman, Islam E’leimat, Majdi Al Qawasmeh, Khalid El-Salem
Neurodegenerative Disease Management.2021; 11(2): 113. CrossRef
Assessment of Risk Factors for Falls among Patients with Parkinson’s Disease
Jacek Wilczyński, Magdalena Ścipniak, Kacper Ścipniak, Kamil Margiel, Igor Wilczyński, Rafał Zieliński, Piotr Sobolewski, Stefano Brunelli
BioMed Research International.2021; 2021: 1. CrossRef

Sedentary Time is Associated with Worse Attention in Parkinson’s Disease: A Pilot Study: Sara B. W. Troutman, Kirk I. Erickson, George Grove, Andrea M. Weinstein; J Mov Disord. 2020;13(2):146-149. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20015

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Abstract PDF Supplementary Material: Objective
Cognitive symptoms of Parkinson’s disease (PD) may be alleviated by moderate-to-vigorous physical activity (MVPA), but no published research has characterized the relationship between objectively measured sedentary behavior and cognitive symptoms of PD. Therefore, the objective of this study was to assess the cross-sectional relationship between sedentary time and cognitive performance in a small pilot sample of individuals with mild-to-moderate PD. Methods Objective measures of sedentary time were obtained using an armband accelerometer. Cognition was assessed with the Parkinson’s Disease Cognitive Rating Scale and a computerized task-switching paradigm. Results The percentage of awake time spent in sedentary activities was negatively correlated with attention (β = -14.20, t(12) = -2.47, p = 0.03) but not other cognitive domains (p > 0.05) after controlling for MVPA and medication dosage. Conclusion Sedentary activity may have unique associations with cognition, particularly attention, over and above MVPA in individuals with PD.

Case Reports

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother: Wendi Wang, Baozhong Xin, Heng Wang; J Mov Disord. 2020;13(2):150-153. Published online March 18, 2020; DOI: https://doi.org/10.14802/jmd.19069

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Abstract PDF: Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia: Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn; J Mov Disord. 2020;13(2):154-158. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19087

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Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

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Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
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GPi‐DBS for KMT2B ‐Associated Dystonia: Systematic Review and Meta‐Analysis
Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava
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Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
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Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou
Molecular Biology Reports.2021; 48(1): 371. CrossRef
Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
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Deep Brain Stimulation for Pediatric Dystonia
Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
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Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Annals of Clinical and Translational Neurology.2020; 7(10): 2047. CrossRef
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate,
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Treatment of Acute Delirium in a Patient with Parkinson’s Disease by Transfer to the Intensive Care Unit and Administration of Dexmedetomidine: Morgan Lombardo, Amanda DiPiazza, Kelly Rippey, Naomi Lubarr, Elana Clar, Hooman Azmi; J Mov Disord. 2020;13(2):159-162. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20005

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The treatment of delirium or psychosis in patients with Parkinson’s disease (PD) can be complicated by the limited number of pharmacological agents that can be used in this population. Typical and atypical antipsychotics are contraindicated, as they can worsen motor symptoms. The treatment of acute delirium is even more complicated in the hospital setting, as many medications deemed safer in this population are only available in oral form. We present a case of acute delirium in a patient with PD, likely precipitated by a polypharmacy interaction of new medications, that was successfully managed by transferring the patient to the intensive care unit and administering dexmedetomidine for 72 hours.

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Letters 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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Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
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The Utility of Serial Cerebrospinal Fluid Removal in Elderly Patients with Idiopathic Normal-Pressure Hydrocephalus?: Halil Onder, Guven Arslan; J Mov Disord. 2020;13(2):166-167. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20012

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X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease
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Focal Muscle Spasms after Thoracic Spine Surgery for Schwannoma: The Twitching Scar: Paulo Eduardo Mestrinelli Carrilho, Marcius Benigno Marques dos Santos; J Mov Disord. 2020;13(2):168-170. Published online May 29, 2020; DOI: https://doi.org/10.14802/jmd.20017

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