Journal of Movement Disorders

Review Articles

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution: Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):231-247. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23065

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Abstract PDF Supplementary Material: Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Historical and More Common Nongenetic Movement Disorders From Asia: Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin; J Mov Disord. 2023;16(3):248-260. Published online June 9, 2023; DOI: https://doi.org/10.14802/jmd.22224

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Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

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Diabetic striatopathy and other acute onset de novo movement disorders in hyperglycemia
Subhankar Chatterjee, Ritwik Ghosh, Payel Biswas, Shambaditya Das, Samya Sengupta, Souvik Dubey, Biman Kanti Ray, Alak Pandit, Julián Benito-León, Rana Bhattacharjee
Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2024; 18(3): 102997. CrossRef

Case Report

A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up: Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen-Yang Lim; J Mov Disord. 2023;16(1):91-94. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22109

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Abstract PDF Supplementary Material

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.

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Genetic Update and Treatment for Dystonia
Jan Koptielow, Emilia Szyłak, Olga Szewczyk-Roszczenko, Piotr Roszczenko, Jan Kochanowicz, Alina Kułakowska, Monika Chorąży
International Journal of Molecular Sciences.2024; 25(7): 3571. 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

Brief communication

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; J Mov Disord. 2022;15(3):258-263. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21185

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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.

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

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Abstract PDF Supplementary 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.

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Leukoencephalopathy, calcifications, and cysts: Labrune syndrome
Andrew Waack, Jordan Norris, Kathryn Becker, Alastair Hoyt, Jason Schroeder
Radiology Case Reports.2023; 18(2): 584. CrossRef
Leukoencephalopathy with calcifications and cysts: A case report with literature review
Jingya Li, Chun Li, Qing Zhang, Chao Qiu
Neurological Sciences.2023; 44(8): 2715. CrossRef
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
Journal of Movement Disorders.2023; 16(2): 115. CrossRef
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi
Genes.2023; 14(9): 1817. CrossRef
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
Frontiers in Neurology.2023;[Epub] CrossRef

Original Article

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

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Abstract PDF Supplementary 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.

Citations

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Calprotectin in Parkinsonian disease: Anticipation and dedication
Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Ayah Talal Zaidalkiani, Athanasios Alexiou, Marios Papadakis, Mostafa M. Bahaa, Ammar AL-Faraga, Gaber El-Saber Batiha
Ageing Research Reviews.2024; 93: 102143. CrossRef
Diagnostic Accuracy of Fecal Calprotectin in Discriminating Organic-Inflammatory Gastrointestinal Diseases and Functional Gastrointestinal Disorders in Older Patients
Antonella Gallo, Marcello Covino, Silvia Baroni, Sara Camilli, Francesca Ibba, Silvia Andaloro, Maria Chiara Agnitelli, Fiammetta Maria Rognoni, Francesco Landi, Massimo Montalto
Journal of Personalized Medicine.2024; 14(3): 227. CrossRef
Nocardia cyriacigeorgica Elicits Gut Disturbances in a Leaky Gut Model of Colitis, but Not the Harmful Cascade Leading to Gut-First Parkinson’s Disease
João Duarte Magalhães, Emanuel Candeias, Inês Melo-Marques, António E. Abreu, Ana Raquel Pereira-Santos, Ana Raquel Esteves, Sandra Morais Cardoso, Nuno Empadinhas
International Journal of Molecular Sciences.2024; 25(6): 3423. CrossRef
Inflammation in multiple system atrophy
Marta Leńska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Królicki, Urszula Fiszer, Dariusz Koziorowski
Frontiers in Immunology.2023;[Epub] CrossRef
Gut-to-brain spreading of pathology in synucleinopathies: A focus on molecular signalling mediators
Verena Schmitt, Rebecca Katharina Masanetz, Martin Weidenfeller, Lara Savannah Ebbinghaus, Patrick Süß, Stephan P. Rosshart, Stephan von Hörsten, Friederike Zunke, Jürgen Winkler, Wei Xiang
Behavioural Brain Research.2023; 452: 114574. CrossRef
Calprotectin, Biomarker of Depression in Patients with Inflammatory Bowel Disease?
Miorita Melina Iordache, Anca Mihaela Belu, Sabina E. Vlad, Kamer Ainur Aivaz, Andrei Dumitru, Cristina Tocia, Eugen Dumitru
Medicina.2023; 59(7): 1240. CrossRef
Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya
npj Parkinson's Disease.2023;[Epub] CrossRef
Fecal calprotectin as an intestinal inflammation marker is elevated in glaucoma
Zuo Wang, Hang Yuan, Xiong Zhu, Jinxia Wang, Wenbo Xiu, Yang Chen, Gao Zhang, Jing Fu, Kun Peng, An Li, Donghua Liu, Xijing Huang, Chong He, Fang Lu
Biomarkers in Medicine.2023; 17(9): 465. CrossRef
Pesticides and the Microbiome-Gut-Brain Axis: Convergent Pathways in the Pathogenesis of Parkinson’s Disease
Kristina Kulcsarova, Corinna Bang, Daniela Berg, Eva Schaeffer
Journal of Parkinson's Disease.2023; 13(7): 1079. CrossRef
The microbiome–gut–brain axis in Parkinson disease — from basic research to the clinic
Ai Huey Tan, Shen Yang Lim, Anthony E. Lang
Nature Reviews Neurology.2022; 18(8): 476. CrossRef
The Gut Microbiome–Brain Crosstalk in Neurodegenerative Diseases
Laura Ghezzi, Claudia Cantoni, Emanuela Rotondo, Daniela Galimberti
Biomedicines.2022; 10(7): 1486. CrossRef
Gastrointestinal Involvement in Extra-Digestive Disease: Which Is the Role of Fecal Calprotectin?
Angela Saviano, Marcello Candelli, Christian Zanza, Andrea Piccioni, Alessio Migneco, Veronica Ojetti
Medicina.2022; 58(10): 1384. CrossRef

Review Article

Management of Parkinson’s Disease in the COVID-19 Pandemic and Future Perspectives in the Era of Vaccination: Yue Hui Lau, Keng Ming Lau, Norlinah Mohamed Ibrahim; J Mov Disord. 2021;14(3):177-183. Published online July 29, 2021; DOI: https://doi.org/10.14802/jmd.21034

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Abstract PDF

The current coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARSCoV- 2) has led to a serious global health crisis. Increasing evidence suggests that elderly individuals with underlying chronic diseases, including Parkinson’s disease (PD), are particularly vulnerable to this infection. Changes in the routine care of PD patients should be implemented carefully without affecting the quality provided. The utilization of telemedicine for clinical consultation, assessment and rehabilitation has also been widely recommended. Therefore, the aim of this review is to provide recommendations in the management of PD during the pandemic as well as in the early phase of vaccination programs to highlight the potential sequelae and future perspectives of vaccination and further research in PD. Even though a year has passed since COVID- 19 emerged, most of us are still facing great challenges in providing a continuum of care to patients with chronic neurological disorders. However, we should regard this health crisis as an opportunity to change our routine approach in managing PD patients and learn more about the impact of SARS-CoV-2. Hopefully, PD patients can be vaccinated promptly, and more detailed research related to PD in COVID-19 can still be carried out.

Citations

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Increasing exercise with a mobile app in people with Parkinson’s disease: a pilot study
Jong Hyeon Ahn, Dongrul Shin, Dongyeong Lee, Hye Young Kim, Jinyoung Youn, Jin Whan Cho, Suzanne Kuys
Brain Impairment.2024;[Epub] CrossRef
Potential convergence of olfactory dysfunction in Parkinson’s disease and COVID-19: The role of neuroinflammation
Hui Li, Junliang Qian, Youcui Wang, Juan Wang, Xiaoqing Mi, Le Qu, Ning Song, Junxia Xie
Ageing Research Reviews.2024; 97: 102288. CrossRef
A large survey on COVID-19 vaccination in patients with Parkinson’s disease and healthy population
Chao Han, Zhen Zhen Zhao, Piu Chan, Fang Li, Chun Ling Chi, Xin Zhang, Yan Zhao, Jing Chen, Jing Hong Ma
Vaccine.2023; 41(43): 6483. CrossRef
Role of SARS-CoV-2 in Modifying Neurodegenerative Processes in Parkinson’s Disease: A Narrative Review
Jeremy M. Morowitz, Kaylyn B. Pogson, Daniel A. Roque, Frank C. Church
Brain Sciences.2022; 12(5): 536. CrossRef
Deep Learning Paradigm for Cardiovascular Disease/Stroke Risk Stratification in Parkinson’s Disease Affected by COVID-19: A Narrative Review
Jasjit S. Suri, Mahesh A. Maindarkar, Sudip Paul, Puneet Ahluwalia, Mrinalini Bhagawati, Luca Saba, Gavino Faa, Sanjay Saxena, Inder M. Singh, Paramjit S. Chadha, Monika Turk, Amer Johri, Narendra N. Khanna, Klaudija Viskovic, Sofia Mavrogeni, John R. Lai
Diagnostics.2022; 12(7): 1543. CrossRef
Movement disorders in COVID-19 times: impact on care in movement disorders and Parkinson disease
Sabrina Poonja, K. Ray Chaudhuri, Janis M. Miyasaki
Current Opinion in Neurology.2022; 35(4): 494. CrossRef
Viruses, parkinsonism and Parkinson’s disease: the past, present and future
Valentina Leta, Daniele Urso, Lucia Batzu, Yue Hui Lau, Donna Mathew, Iro Boura, Vanessa Raeder, Cristian Falup-Pecurariu, Daniel van Wamelen, K. Ray Chaudhuri
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Letter to the editor

Anti-GABA_B Receptor Encephalitis Presenting with Atypical Corticobasal Syndrome in a Patient with Parkinson’s Disease: Noor Sharizat Abdullah, Tan Hui Jan, Rabani Remli, Shahizon Azura Mohamad Mukari, Norlinah Mohamed Ibrahim; J Mov Disord. 2020;13(3):235-237. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20011

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Citations

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Neural Surface Antibodies and Neurodegeneration: Clinical Commonalities and Pathophysiological Relationships
Maria Pia Giannoccaro, Federico Verde, Luana Morelli, Giovanni Rizzo, Fortuna Ricciardiello, Rocco Liguori
Biomedicines.2023; 11(3): 666. CrossRef
Neuronal Antibody-Associated Corticobasal Syndrome
Anu Gupta, Roopa Rajan, Shiny Joy, Chitrangada Shivaji Yadav, Madhavi Tripathi, Shailesh B. Gaikwad, Vishnu VY, Mamta B. Singh, Rohit Bhatia, Anita Mahadevan, Madakasira Vasantha Padma Srivastava
Annals of Indian Academy of Neurology.2023; 26(5): 787. CrossRef

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