Journal of Movement Disorders

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.

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.

Citations

Citations to this article as recorded by

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;[Epub] CrossRef
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
Journal of Movement Disorders.2023; 16(2): 115. 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

Citations to this article as recorded by

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

Citations to this article as recorded by

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
Journal of Neural Transmission.2022; 129(9): 1119. CrossRef

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

Citations to this article as recorded by

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

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