Journal of Movement Disorders

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

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Accuracy of Machine Learning Using the Montreal Cognitive Assessment for the Diagnosis of Cognitive Impairment in Parkinson’s Disease: Junbeom Jeon, Kiyong Kim, Kyeongmin Baek, Seok Jong Chung, Jeehee Yoon, Yun Joong Kim; J Mov Disord. 2022;15(2):132-139. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.22012

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Abstract PDF Supplementary Material: Objective
The Montreal Cognitive Assessment (MoCA) is recommended for assessing general cognition in Parkinson’s disease (PD). Several cutoffs of MoCA scores for diagnosing PD with cognitive impairment (PD-CI) have been proposed, with varying sensitivity and specificity. This study investigated the utility of machine learning algorithms using MoCA cognitive domain scores for improving diagnostic performance for PD-CI.
Methods
In total, 2,069 MoCA results were obtained from 397 patients with PD enrolled in the Parkinson’s Progression Markers Initiative database with a diagnosis of cognitive status based on comprehensive neuropsychological assessments. Using the same number of MoCA results randomly sampled from patients with PD with normal cognition or PD-CI, discriminant validity was compared between machine learning (logistic regression, support vector machine, or random forest) with domain scores and a cutoff method.
Results
Based on cognitive status classification using a dataset that permitted sampling of MoCA results from the same individual (n = 221 per group), no difference was observed in accuracy between the cutoff value method (0.74 ± 0.03) and machine learning (0.78 ± 0.03). Using a more stringent dataset that excluded MoCA results (n = 101 per group) from the same patients, the accuracy of the cutoff method (0.66 ± 0.05), but not that of machine learning (0.74 ± 0.07), was significantly reduced. Inclusion of cognitive complaints as an additional variable improved the accuracy of classification using the machine learning method (0.87–0.89).
Conclusion
Machine learning analysis using MoCA domain scores is a valid method for screening cognitive impairment in PD.

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant: Valerie Olson, Irene J Chang, J Lawrence Merritt nd, Dararat Mingbunjerdsuk; Received December 31, 2021 Accepted February 15, 2022 Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21196 [Epub ahead of print]

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Movement Disorders Resulting From Bilateral Basal Ganglia Lesions in End-Stage Kidney Disease: A Systematic Review: Kah Hui Yap, Nurul Husna Baharudin, Abdul Halim Abdul Gafor, Rabani Remli, Shen-Yang Lim, Wan Asyraf Wan Zaidi, Shahrul Azmin, Shahizon Azura Mohamed Mukari, Raihanah Abdul Khalid, Norlinah Mohamed Ibrahim; Received December 15, 2021 Accepted February 19, 2022 Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21185 [Epub ahead of print]

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Abstract PDF Supplementary Material: Objective
The basal ganglia (BG) are susceptible to fluctuations in blood urea levels, sometimes resulting in movement disorders. We described patients with end-stage kidney disease (ESKD) presenting with movement disorders associated with bilateral BG lesions on imaging.
Methods
We report four patients and systematically reviewed all published cases of ESKD presenting with movement disorders and bilateral BG lesions (EBSCOhost and Ovid).
Results
Of the 72 patients identified, 55 (76.4%) were on regular dialysis. Parkinsonism was the most common movement disorder (n = 39; 54.2%), followed by chorea (n = 24; 33.3%). Diabetes mellitus (n = 51; 70.8%) and hypertension (n = 16; 22.2%) were the most common risk factors. Forty-three (59.7%) were of Asian ethnicity. Complete clinical resolution was reported in 17 (30.9%) patients, while 38 (69.1%) had incomplete clinical resolution with relapse. Complete radiological resolution occurred in 14 (34.1%) patients.
Conclusion
Movement disorders associated with BG lesions should be recognized as a rare and potentially reversible metabolic movement disorder in patients with ESKD.

Development of Clinical Milestones in Parkinson’s Disease After Bilateral Subthalamic Deep Brain Stimulation: Jed Noel A. Ong, Jung Hwan Shin, Seungho Jeon, Chan Young Lee, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2022;15(2):124-131. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21106

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Abstract PDF Supplementary Material: Objective
Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) patients does not halt disease progression, as these patients will progress and develop disabling non-levodopa responsive symptoms. These features may act as milestones that represent the overall functionality of patients after DBS. The objective of this study was to investigate the development of clinical milestones in advanced PD patients who underwent bilateral STN-DBS.
Methods
The study evaluated PD patients who underwent STN-DBS at baseline up to their last follow-up using the Unified Parkinson’s Disease Rating Scale and Hoehn and Yahr scale. The symptoms of hallucinations, dysarthria, dysphagia, frequent falls, difficulty walking, cognitive impairment and the loss of autonomy were chosen as the clinical milestones.
Results
A total of 106 patients with a mean age of 47.21 ± 10.52 years at disease onset, a mean age of 58.72 ± 8.74 years at surgery and a mean disease duration of 11.51 ± 4.4 years before surgery were included. Initial improvement of motor symptoms was seen after the surgery with the appearance of clinical milestones over time. Using the moderately disabling criteria, 81 patients (76.41%) developed at least one clinical milestone, while 48 patients (45.28%) developed a milestone when using the severely disabling criteria.
Conclusion
STN-DBS has a limited effect on axial and nonmotor symptoms of the PD patients, in contrast to the effect on motor symptoms. These symptoms may serve as clinical milestones that can convey the status of PD patients and its impact on the patients and their caregivers. Therefore, advanced PD patients, even those treated with bilateral STN-DBS, will still require assistance and cannot live independently in the long run.

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

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Abstract PDF Supplementary 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.

Comment on “Parainfectious Anti-Glial Fibrillary Acidic Protein-Associated Meningoencephalitis”: Byoung June Ahn, Kyum-Yil Kwon; J Mov Disord. 2022;15(2):187-188. Published online May 10, 2022; DOI: https://doi.org/10.14802/jmd.21184

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Catatonia in Hospitalized Patients With COVID-19: An Important Clinical Finding That Should Not be Missed: Tien Lee Ong, Sapiah Sapuan; Received November 26, 2021 Accepted January 25, 2022 Published online May 10, 2022; DOI: https://doi.org/10.14802/jmd.21172 [Epub ahead of print]

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Hand Movement-Induced Eyeblink Bursts in a Patient With Parkinson’s Disease: Gohei Yamada, Mitsuya Horiba, Takanari Toyoda, Eiichi Katada, Noriyuki Matsukawa; J Mov Disord. 2022;15(2):190-192. Published online May 10, 2022; DOI: https://doi.org/10.14802/jmd.21161

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Acute Extrapyramidal Side Effects Following Domperidone Intake in a 48-Year-Old Female Patient: The First Genetic Alteration and Drug Interaction Characterized: Nguyen Duc Thuan, Vu Phuong Nhung, Hoang Thi Dung, Nhu Dinh Son, Nguyen Hai Ha, Nguyen Dang Ton; J Mov Disord. 2022;15(2):193-195. Published online May 10, 2022; DOI: https://doi.org/10.14802/jmd.21151

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Mosapride-Induced Movement Disorders: Sang-Wook Hong, Hae-Won Shin; Received October 7, 2021 Accepted January 20, 2022 Published online May 10, 2022; DOI: https://doi.org/10.14802/jmd.21149 [Epub ahead of print]

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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

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Abstract 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.

Pseudodystonia and Neuropathic Tremor in a Patient With Monomelic Amyotrophy: Seung Hyun Lee, Yun Su Hwang, Sungyang Jo, Sun Ju Chung; J Mov Disord. 2022;15(2):181-183. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21138

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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

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Abstract PDF Supplementary 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.

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

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Abstract 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.

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