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Volume 13(2); May 2020
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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
  • 13,735 View
  • 423 Download
  • 20 Web of Science
  • 22 Crossref
AbstractAbstract PDF
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.

Citations

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  • Disparities in Access to Deep Brain Stimulation for Parkinson’s Disease and Proposed Interventions: A Literature Review
    Anthony E. Bishay, Natasha C. Hughes, Michael Zargari, Danika L. Paulo, Steven Bishay, Alexander T. Lyons, Mariam N. Morkos, Tyler J. Ball, Dario J. Englot, Sarah K. Bick
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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
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    Jamir Pitton Rissardo, Ana Letícia Fornari Caprara
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    Valentino Rački, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić
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  • 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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  • Inflammatory Diseases Among Norwegian LRRK2 Mutation Carriers. A 15-Years Follow-Up of a Cohort
    Jan O. Aasly
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  • Increased Mortality in Young-Onset Parkinson’s Disease
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  • Contributing Factors and Evolution of Impulse Control Disorder in the Luxembourg Parkinson Cohort
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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
  • 13,980 View
  • 593 Download
  • 10 Web of Science
  • 14 Crossref
AbstractAbstract 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.

Citations

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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
  • 20,806 View
  • 760 Download
  • 59 Web of Science
  • 55 Crossref
AbstractAbstract 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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  • Neurological Manifestation of SARS-CoV-2 Induced Inflammation and Possible Therapeutic Strategies Against COVID-19
    Dipak Kumar, Sadaf Jahan, Andleeb Khan, Arif Jamal Siddiqui, Neeru Singh Redhu, Wahajuddin, Johra Khan, Saeed Banwas, Bader Alshehri, Mohammed Alaidarous
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    Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
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  • Clinical Profiles and Mortality of COVID‐19 Inpatients with Parkinson's Disease in Germany
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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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PDFSupplementary Material

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  • Cortical mean diffusivity is reliable in measuring brain abnormalities in drug-naïve essential tremor patients
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  • Tapping the Potential of Multimodal Non-invasive Brain Stimulation to Elucidate the Pathophysiology of Movement Disorders
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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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AbstractAbstract 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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  • Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect
    Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider
    Journal of Movement Disorders.2024; 17(2): 158.     CrossRef
  • Autonomic dysfunction in progressive supranuclear palsy
    Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
    Journal of Neurology.2023; 270(1): 109.     CrossRef
  • PDQ-8: A Simplified and Effective Tool Measuring Life Quality in Progressive Supranuclear Palsy
    Xin-Yi Li, Ming-Jia Chen, Xiao-Niu Liang, Rui-Xin Yao, Bo Shen, Bin Wu, Gen Li, Yi-Min Sun, Jian-Jun Wu, Feng-Tao Liu, Yu-Jie Yang, Jian Wang
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  • Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy
    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
    Frontiers in Neurology.2023;[Epub]     CrossRef
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    Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
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  • Structural correlates of survival in progressive supranuclear palsy
    Duncan Street, W Richard Bevan-Jones, Maura Malpetti, P Simon Jones, Luca Passamonti, Boyd CP. Ghosh, Timothy Rittman, Ian TS. Coyle-Gilchrist, Kieren Allinson, Catherine E. Dawson, James B. Rowe
    Parkinsonism & Related Disorders.2023; 116: 105866.     CrossRef
  • Migraine and Tension-type Headache in Parkinson’s Disease and Progressive Supranuclear Palsy/Corticobasal Syndrome
    Vinayak Jatale, Ashutosh Tiwari, Mritunjai Kumar, Ravi Gupta, Niraj Kumar
    Annals of Indian Academy of Neurology.2023; 26(5): 708.     CrossRef
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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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    Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi
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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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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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AbstractAbstract PDF
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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  • Effects of subthalamic nucleus deep brain stimulation using different frequency programming paradigms on axial symptoms in advanced Parkinson’s disease
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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
  • 10,187 View
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AbstractAbstract PDFSupplementary Material
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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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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AbstractAbstract 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
  • Fluctuations in Upper and Lower Body Movement during Walking in Normal Pressure Hydrocephalus and Parkinson’s Disease Assessed by Motion Capture with a Smartphone Application, TDPT-GT
    Chifumi Iseki, Shou Suzuki, Tadanori Fukami, Shigeki Yamada, Tatsuya Hayasaka, Toshiyuki Kondo, Masayuki Hoshi, Shigeo Ueda, Yoshiyuki Kobayashi, Masatsune Ishikawa, Shigenori Kanno, Kyoko Suzuki, Yukihiko Aoyagi, Yasuyuki Ohta
    Sensors.2023; 23(22): 9263.     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
  • 8,721 View
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AbstractAbstract PDFSupplementary 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.

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  • A systematic review of the associations between sedentary behavior, physical inactivity, and non-motor symptoms of Parkinson’s disease
    Aiza Khan, Joy Ezeugwa, Victor E. Ezeugwu, Michael Francis Salvatore
    PLOS ONE.2024; 19(3): e0293382.     CrossRef
  • A blood-based marker of mitochondrial DNA damage in Parkinson’s disease
    Rui Qi, Esther Sammler, Claudia P. Gonzalez-Hunt, Ivana Barraza, Nicholas Pena, Jeremy P. Rouanet, Yahaira Naaldijk, Steven Goodson, Marie Fuzzati, Fabio Blandini, Kirk I. Erickson, Andrea M. Weinstein, Michael W. Lutz, John B. Kwok, Glenda M. Halliday, N
    Science Translational Medicine.2023;[Epub]     CrossRef
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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AbstractAbstract 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.

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  • Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
    Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
    Biomedicines.2023; 11(7): 1899.     CrossRef
  • Study on Mechanism of Cumulative Directional Blasting of Brittle Karst Limestone in the Guizhou Province
    Jie Hu, Yiping Zhang, Chengcheng Fang, Yusong Miao, Xin Zhao, Dengguo Liu, José António Fonseca de Oliveira Correia
    Advances in Materials Science and Engineering.2023; 2023: 1.     CrossRef
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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  • 13 Web of Science
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AbstractAbstract PDFSupplementary Material
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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  • The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
    Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
    Journal of the Neurological Sciences.2024; 459: 122970.     CrossRef
  • GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
    Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
    Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
    Journal of Movement Disorders.2023; 16(3): 285.     CrossRef
  • Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
    Priyanka Dey Talukdar, Urmi Chatterji
    Signal Transduction and Targeted Therapy.2023;[Epub]     CrossRef
  • 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
    Movement Disorders Clinical Practice.2022; 9(1): 31.     CrossRef
  • Dystonic Tremor in Adult-onset DYT-KMT2B
    Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
    Internal Medicine.2022; 61(15): 2357.     CrossRef
  • Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
    V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
    Russian Journal of Child Neurology.2022; 17(3): 79.     CrossRef
  • 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
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef
  • Deep Brain Stimulation for Pediatric Dystonia
    Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
    Seminars in Pediatric Neurology.2021; 38: 100896.     CrossRef
  • 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
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • 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,
    Brain.2020; 143(11): 3242.     CrossRef
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
  • 7,425 View
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AbstractAbstract PDF
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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  • Toxin Induced Parkinsonism and Hospitalization Related Adverse Outcome Mitigation for Parkinson’s Disease: A Comprehensive Review
    Kenneth R. Dalton, Charles J. Kidd, Nawaz Hack
    Journal of Clinical Medicine.2023; 12(3): 1074.     CrossRef
  • Fountain of youth—Targeting autophagy in aging
    Lea Danics, Anna Anoir Abbas, Balázs Kis, Karolina Pircs
    Frontiers in Aging Neuroscience.2023;[Epub]     CrossRef
  • Effect of dexmedetomidine on postoperative delirium in patients undergoing brain tumour resections: study protocol of a randomised controlled trial
    Dexiang Wang, Ruowen Li, Shu Li, Juan Wang, Min Zeng, Jia Dong, Xiaoyuan Liu, Nan Lin, Yuming Peng
    BMJ Open.2021; 11(11): e051584.     CrossRef
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
  • 6,801 View
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PDFSupplementary Material

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  • 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;[Epub]     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
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  • 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
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
  • 4,499 View
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PDF

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  • X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease
    Madeline Hart, Joshua Conrad, Emma Barrett, Kaitlyn Legg, Gabrielle Ivey, Peter H.U. Lee, Yun C. Yung, Joon W. Shim
    Experimental Neurology.2023; 366: 114433.     CrossRef
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
  • 5,191 View
  • 191 Download
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PDFSupplementary Material

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  • Pain After Spine Fusion for Adolescent Idiopathic Scoliosis
    Manaf H. Younis, Adam L. Haydel, Lauren Saunee, Rutledge C. Clement
    Journal of the Pediatric Orthopaedic Society of North America.2022; 4(2): 381.     CrossRef

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