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Most-download articles are from the articles published in 2020 during the last three month.

Review Articles
Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
Pei-Chen Hsieh, Yih-Ru Wu
J Mov Disord. 2022;15(2):95-105.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21077
  • 964 View
  • 163 Download
AbstractAbstract PDFSupplementary Material
Movement disorders are common manifestations in autoimmune-mediated encephalitis. This group of diseases is suspected to be triggered by infection or neoplasm. Certain phenotypes correlate with specific autoantibody-related neurological disorders, such as orofacial-lingual dyskinesia with N-methyl-D-aspartate receptor encephalitis and faciobrachial dystonic seizures with leucine-rich glioma-inactivated protein 1 encephalitis. Early diagnosis and treatment, especially for autoantibodies targeting neuronal surface antigens, can improve prognosis. In contrast, the presence of autoantibodies against intracellular neuronal agents warrants screening for underlying malignancy. However, early clinical diagnosis is challenging because these diseases can be misdiagnosed. In this article, we review the distinctive clinical phenotypes, magnetic resonance imaging findings, and current treatment options for autoimmune-mediated encephalitis.
Evidence of Inflammation in Parkinson’s Disease and Its Contribution to Synucleinopathy
Thuy Thi Lai, Yun Joong Kim, Hyeo-il Ma, Young Eun Kim
J Mov Disord. 2022;15(1):1-14.   Published online November 3, 2021
DOI: https://doi.org/10.14802/jmd.21078
  • 2,885 View
  • 394 Download
  • 1 Citations
AbstractAbstract PDF
Accumulation of alpha-synuclein (αSyn) protein in neurons is a renowned pathological hallmark of Parkinson’s disease (PD). In addition, accumulating evidence indicates that activated inflammatory responses are involved in the pathogenesis of PD. Thus, achieving a better understanding of the interaction between inflammation and synucleinopathy in relation to the PD process will facilitate the development of promising disease-modifying therapies. In this review, the evidence of inflammation in PD is discussed, and human, animal, and laboratory studies relevant to the relationship between inflammation and αSyn are explored as well as new therapeutic targets associated with this relationship.
Case Report
Expanding the Clinical Spectrum of RFC1 Gene Mutations
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
J Mov Disord. 2022;15(2):167-170.   Published online March 22, 2022
DOI: https://doi.org/10.14802/jmd.21117
  • 731 View
  • 158 Download
AbstractAbstract PDFSupplementary Material
Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.
Review Article
Diagnostic Criteria for Dementia with Lewy Bodies: Updates and Future Directions
Masahito Yamada, Junji Komatsu, Keiko Nakamura, Kenji Sakai, Miharu Samuraki-Yokohama, Kenichi Nakajima, Mitsuhiro Yoshita
J Mov Disord. 2020;13(1):1-10.   Published online November 8, 2019
DOI: https://doi.org/10.14802/jmd.19052
  • 19,077 View
  • 1,413 Download
  • 15 Citations
AbstractAbstract PDF
The aim of this article is to describe the 2017 revised consensus criteria for the clinical diagnosis of dementia with Lewy bodies (DLB) with future directions for the diagnostic criteria. The criteria for the clinical diagnosis of probable and possible DLB were first published as the first consensus report in 1996 and were revised in the third consensus report in 2005. After discussion at the International DLB Conference in Fort Lauderdale, Florida, USA, in 2015, the International DLB Consortium published the fourth consensus report including the revised consensus criteria in 2017. The 2017 revised criteria clearly distinguish between clinical features and diagnostic biomarkers. Significant new information about previously reported aspects of DLB has been incorporated, with increased diagnostic weighting given to rapid eye movement (REM) sleep behavior disorder (RBD) and iodine-123-metaiodobenzylguanidine (MIBG) myocardial scintigraphy. Future directions include the development of the criteria for early diagnosis (prodromal DLB) and the establishment of new biomarkers that directly indicate Lewy-related pathology, including α-synuclein imaging, biopsies of peripheral tissues (skin, etc.) for the demonstration of α-synuclein deposition, and biochemical markers (cerebrospinal fluid/blood), as well as the pathological evaluation of the sensitivity and specificity of the 2017 revised diagnostic criteria. In conclusion, the revised consensus criteria for the clinical diagnosis of DLB were reported with the incorporation of new information about DLB in 2017. Future directions include the development of the criteria for early diagnosis and the establishment of biomarkers directly indicative of Lewy-related pathology.
Original Articles
Umami and Other Taste Perceptions in Patients With Parkinson’s Disease
Priya Jagota, Nattida Chotechuang, Chanawat Anan, Teeraparp Kitjawijit, Chanchai Boonla, Roongroj Bhidayasiri
J Mov Disord. 2022;15(2):115-123.   Published online March 22, 2022
DOI: https://doi.org/10.14802/jmd.21058
  • 703 View
  • 131 Download
AbstractAbstract PDF
Objective
Studies of taste perceptions in Parkinson’s disease (PD) patients have been controversial, and none of these studies have assessed umami taste. This study aimed to assess umami, along with the other 4 taste functions in PD patients.
Methods
Participants were tested for gustation using the modified filter paper disc method and olfaction using the modified Sniffin’ Stick-16 (mSS-16) test (only 14 culturally suitable items were used). A questionnaire evaluated patients’ subjective olfactory and gustatory dysfunction, taste preference, appetite, and food habits.
Results
A total of 105 PD patients and 101 age- and sex-matched controls were included. The body mass index (BMI) of PD patients was lower than that of controls (PD = 22.62, controls = 23.86, p = 0.028). The mSS-16 score was 10.7 for controls and 6.4 for PD patients (p < 0.001) (normal ≥ 9). Taste recognition thresholds (RTs) for sweet, salty, sour, bitter and umami tastes were significantly higher in PD, indicating poorer gustation. All taste RTs correlated with each other, except for umami. Most patients were unaware of their dysfunction. Patients preferred sweet, salty and umami tastes more than the controls. Dysgeusia of different tastes in patients was differentially associated with poorer discrimination of tastes, an inability to identify the dish and adding extra seasoning to food. BMI and mSS-16 scores showed no correlation in either patients or controls.
Conclusion
PD patients have dysgeusia for all five tastes, including umami, which affects their appetite and diet. Patients preferred sweet, salty and umami tastes. This information can help adjust patients’ diets to improve their nutritional status.
Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy
Jia Wei Hor, Shen-Yang Lim, Eng Soon Khor, Kah Kian Chong, Sze Looi Song, Norlinah Mohamed Ibrahim, Cindy Shuan Ju Teh, Chun Wie Chong, Ida Normiha Hilmi, Ai Huey Tan
J Mov Disord. 2022;15(2):106-114.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21085
  • 1,327 View
  • 241 Download
  • 2 Citations
AbstractAbstract PDFSupplementary Material
Objective
Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA.
Methods
We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed.
Results
Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA.
Conclusions
Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.
Review Article
The Supplementary Motor Complex in Parkinson’s Disease
Shervin Rahimpour, Shashank Rajkumar, Mark Hallett
J Mov Disord. 2022;15(1):21-32.   Published online November 25, 2021
DOI: https://doi.org/10.14802/jmd.21075
  • 1,940 View
  • 276 Download
AbstractAbstract PDF
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by both motor and nonmotor symptoms. Although the basal ganglia is traditionally the primary brain region implicated in this disease process, this limited view ignores the roles of the cortex and cerebellum that are networked with the basal ganglia to support motor and cognitive functions. In particular, recent research has highlighted dysfunction in the supplementary motor complex (SMC) in patients with PD. Using the PubMed and Google Scholar search engines, we identified research articles using keywords pertaining to the involvement of the SMC in action sequencing impairments, temporal processing disturbances, and gait impairment in patients with PD. A review of abstracts and full-text articles was used to identify relevant articles. In this review of 63 articles, we focus on the role of the SMC in PD, highlighting anatomical and functional data to create new perspectives in understanding clinical symptoms and, potentially, new therapeutic targets. The SMC has a nuanced role in the pathophysiology of PD, with both hypo- and hyperactivation associated with various symptoms. Further studies using more standardized patient populations and functional tasks are needed to more clearly elucidate the role of this region in the pathophysiology and treatment of PD.
Case Report
Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
Jae-Hyeok Lee, Jin-Hong Shin
J Mov Disord. 2022;15(2):171-174.   Published online March 22, 2022
DOI: https://doi.org/10.14802/jmd.21143
  • 667 View
  • 128 Download
  • 1 Citations
AbstractAbstract PDF
Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa2EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.
Review Article
Gene Therapy for Huntington’s Disease: The Final Strategy for a Cure?
Seulgi Byun, Mijung Lee, Manho Kim
J Mov Disord. 2022;15(1):15-20.   Published online November 17, 2021
DOI: https://doi.org/10.14802/jmd.21006
  • 2,536 View
  • 309 Download
AbstractAbstract PDF
Huntington’s disease (HD) has become a target of the first clinical trials for gene therapy among movement disorders with a genetic origin. More than 100 clinical trials regarding HD have been tried, but all failed, although there were some improvements limited to symptomatic support. Compared to other neurogenetic disorders, HD is known to have a single genetic target. Thus, this is an advantage and its cure is more feasible than any other movement disorder with heterogeneous genetic causes. In this review paper, the authors attempt to cover the characteristics of HD itself while providing an overview of the gene transfer methods currently being researched, and will introduce an experimental trial with a preclinical model of HD followed by an update on the ongoing clinical trials for patients with HD.
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
  • 894 View
  • 192 Download
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.
Long-Term Outcome of Hemimasticatory Spasm
Somdattaa Ray, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2022;15(2):146-150.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21067
  • 562 View
  • 112 Download
AbstractAbstract PDFSupplementary Material
Objective
This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Methods
We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020.
Results
The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4–7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy.
Conclusion
This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.
Original Article
Constipation is Associated With Mild Cognitive Impairment in Patients With de novo Parkinson’s Disease
Sung Hoon Kang, Jungyeun Lee, Seong-Beom Koh
J Mov Disord. 2022;15(1):38-42.   Published online November 17, 2021
DOI: https://doi.org/10.14802/jmd.21074
  • 1,732 View
  • 241 Download
AbstractAbstract PDF
Objective
The association between gastrointestinal (GI) symptoms and cognitive profile in patients with Parkinson’s disease (PD) at diagnosis remains unclear, although GI symptoms and cognitive impairment are highly prevalent in patients with PD. We investigated the relationship between constipation and cognitive status. We also aimed to identify the correlation between constipation and each neuropsychological dysfunction.
Methods
A total of 427 patients with de novo Parkinson’s disease with normal cognition (PD-NC, n = 170) and Parkinson’s disease with mild cognitive impairment (PD-MCI, n = 257) at Korea University Guro Hospital in Seoul, Korea were included. All patients underwent comprehensive neuropsychological tests and completed the Non-Motor Symptoms Scale (NMSS). The frequency and severity of constipation were assessed using the NMSS GI symptoms scale, we used logistic regression analysis and partial correlation analysis to determine the associations between constipation score, MCI, and each neuropsychological dysfunction.
Results
Frequent and severe constipation was associated with MCI in patients with PD at diagnosis regardless of disease severity. Specifically, constipation was related to poor performance in frontal-executive and visuospatial functions after controlling for age and sex.
Conclusion
Our findings may provide an understanding of constipation as a marker associated with cognitive impairment in individuals with PD. Therefore, the evaluation of cognitive function is warranted in PD patients with constipation, while further studies are necessary to investigate the detailed mechanism of our results.
Case Report
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review
Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim
J Mov Disord. 2022;15(2):162-166.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21120
  • 1,207 View
  • 209 Download
AbstractAbstract PDFSupplementary Material
Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.
Brief communications
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Vikram Venkappayya Holla, Koti Neeraja, Albert Stezin, Shweta Prasad, Bharat Kumar Surisetti, Manjunath Netravathi, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2022;15(2):156-161.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21146
  • 593 View
  • 106 Download
AbstractAbstract PDFSupplementary Material
Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
Validation of the Thai Version of the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale
Priya Jagota, Prachaya Srivanitchapoom, Sitthi Petchrutchatachart, Surat Singmaneesakulchai, Apichart Pisarnpong, Praween Lolekha, Suwanna Setthawatcharawanich, Parnsiri Chairangsaris, Natlada Limotai, Pawut Mekawichai, Pattamon Panyakaew, Onanong Phokaewvarangkul, Jirada Sringean, Yuvadee Pitakpatapee, Nancy LaPelle, Pablo Martinez-Martin, Xuehan Ren, Sheng Luo, Glenn T. Stebbins, Christopher G. Goetz, Roongroj Bhidayasiri
J Mov Disord. 2022;15(2):151-155.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21104
  • 555 View
  • 98 Download
AbstractAbstract PDFSupplementary Material
Objective
This study aims to validate the Thai translation of the Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS).
Methods
The English version was translated into Thai and then back-translated into English. The translated version underwent 2 rounds of cognitive pretesting to assess the ease of comprehension, ease of use and comfort with the scale. Then, it underwent large clinimetric testing.
Results
The Thai version was validated in 354 PD patients. The comparative fit index (CFI) for all four parts of the Thai version of the MDS-UPDRS was 0.93 or greater. Exploratory factor analysis identified isolated item differences in factor structure between the Thai and English versions.
Conclusion
The overall factor structure of the Thai version was consistent with that of the English version based on the high CFIs (all CFI ≥ 0.90). Hence, it can be designated the official Thai version of the MDS-UPDRS.

JMD : Journal of Movement Disorders