Journal of Movement Disorders

Case Report

Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry: Shen-Yang Lim, Ai Huey Tan, Jia Nee Foo, Yi Jayne Tan, Elaine GY Chew, Azlina Ahmad Annuar, Alfand Marl Dy Closas, Azalea Pajo, Jia Lun Lim, Yi Wen Tay, Anis Nadhirah, Jia Wei Hor, Tzi Shin Toh, Lei Cheng Lit, Jannah Zulkefli, Su Juen Ngim, Weng Khong Lim, Huw R. Morris, Eng-King Tan, Adeline SL Ng; J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024; DOI: https://doi.org/10.14802/jmd.24009

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Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann–Pick disease types A and B. Here, we provide the first report on an association between a loss-of-function variant in the SMPD1 gene present in a heterozygous state (p.Pro332Arg/p.P332R, which is known to result in reduced lysosomal acid sphingomyelinase activity), with PSP-Richardson syndrome in three unrelated patients of Chinese ancestry.

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Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein
Journal of Parkinson's Disease.2024; 14(3): 467. CrossRef

Review Article

Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem: Ai Huey Tan, Kee Huat Chuah, Yuan Ye Beh, Jie Ping Schee, Sanjiv Mahadeva, Shen-Yang Lim; J Mov Disord. 2023;16(2):138-151. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22220

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Abstract PDF: Patients with Parkinson’s disease (PD) face a multitude of gastrointestinal (GI) symptoms, including nausea, bloating, reduced bowel movements, and difficulties with defecation. These symptoms are common and may accumulate during the course of PD but are often under-recognized and challenging to manage. Objective testing can be burdensome to patients and does not correlate well with symptoms. Effective treatment options are limited. Evidence is often based on studies in the general population, and specific evidence in PD is scarce. Upper GI dysfunction may also interfere with the pharmacological treatment of PD motor symptoms, which poses significant management challenges. Several new less invasive assessment tools and novel treatment options have emerged in recent years. The current review provides an overview and a practical approach to recognizing and diagnosing common upper and lower GI problems in PD, e.g., dyspepsia, gastroparesis, small bowel dysfunction, chronic constipation, and defecatory dysfunction. Management aspects are discussed based on the latest evidence from the PD and general populations, with insights for future research pertaining to GI dysfunction in PD.

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.

Citations

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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

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

Letters to the editor

Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging: Si Lei Fong, Ai Huey Tan, Kar Foo Lau, Norlisah Ramli, Shen-Yang Lim; J Mov Disord. 2019;12(3):187-189. Published online August 9, 2019; DOI: https://doi.org/10.14802/jmd.19014

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Citations

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Relationship Between Diabetic Chorea and Timing of MRI Findings: A Systematic Review with Case Reports
Yumi Otaka, Yukinori Harada, Norio Sugawara, Taro Shimizu, Norio Yasui-Furukori
International Journal of General Medicine.2023; Volume 16: 4465. CrossRef
The Possible Precipitating Role of SARS-CoV-2 in a Case of Late-Onset Hemichorea Due to a Hyperosmolar Hyperglycemic State: Case Report and Brief Literature Review
Roberto Sperotto, Laura Ceccarelli, Yan Tereshko, Giovanni Merlino, Gian Luigi Gigli, Mariarosaria Valente
Medicina.2023; 59(11): 1949. CrossRef
Consideration for Hemiballismus in the Differential Diagnosis: A Rare Case of Hyperosmolar Hyperglycemic State
Iman Isayli, Nicolas Ulloa, John Childress
Cureus.2022;[Epub] CrossRef
A Case of Diabetic Hemichorea Hemiballismus Exacerbated by Hypoglycemia
Jessica Rupp, Avrum Gillespie
AACE Clinical Case Reports.2021;[Epub] CrossRef
Hemicorea inducida por hiperglucemia no cetósica: discordancia clínicorradiológica
Juan Pablo García Marmolejo, Manuel David Mayoral Valencia, Paola Andrea Tejada Serna
Universitas Médica.2021;[Epub] CrossRef

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities: Ai Huey Tan, Tien Lee Ong, Norlisah Ramli, Li Kuo Tan, Jia Lun Lim, Mohamad Addin Azhan, Azlina Ahmad-Annuar, Khairul Azmi Ibrahim, Zariah Abdul-Aziz, Laurie J. Ozelius, Allison Brashear, Shen-Yang Lim; J Mov Disord. 2019;12(2):132-134. Published online May 30, 2019; DOI: https://doi.org/10.14802/jmd.18063

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Citations

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White matter and cerebellar involvement in alternating hemiplegia of childhood
Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis
Journal of Neurology.2020; 267(5): 1300. CrossRef

Chorea in Sporadic Creutzfeldt-Jakob Disease: Ai Huey Tan, Tsun Haw Toh, Soon Chai Low, Si Lei Fong, Kah Kian Chong, Kee Wei Lee, Khean Jin Goh, Shen-Yang Lim; J Mov Disord. 2018;11(3):149-151. Published online August 9, 2018; DOI: https://doi.org/10.14802/jmd.18017

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Citations

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Atypical and early symptoms of sporadic Creutzfeldt – Jakob disease: case series and review of the literature
Grammatiki Katsikaki, Ioannis E. Dagklis, Petros Angelopoulos, Dimitrios Ntantos, Angeliki Prevezianou, Sevasti Bostantjopoulou
International Journal of Neuroscience.2021; 131(9): 927. CrossRef
Review of Hereditary and Acquired Rare Choreas
Daniel Martinez-Ramirez, Ruth H. Walker, Mayela Rodríguez-Violante, Emilia M. Gatto
Tremor and Other Hyperkinetic Movements.2020;[Epub] CrossRef
A Case of Creutzfeldt-Jakob Disease Presented as Rapid Progressive Parkinsonism
Yoonah Park, Chan-Nyeong Lee
Dementia and Neurocognitive Disorders.2019; 18(4): 152. CrossRef

Case Reports

Purposeless Groaning in Parkinson’s Disease: Shen-Yang Lim, Ai Huey Tan, Jia Lun Lim, Azlina Ahmad-Annuar; J Mov Disord. 2018;11(2):87-88. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.18004

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Purpose
less groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson’s disease. Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction. Proper recognition of this phenomenon will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications).

Citations

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OFF-Period Purposeless Groaning in Parkinsonism
Vikash Agarwal, Jeyalakshmi Rajan, Norlisah Ramli, Cecilia Santiago, DushyanthB Jasti, AiHuey Tan, Shen-Yang Lim
Neurology India.2022; 70(3): 1232. CrossRef
Involuntary moaning in a Hispanic family with eight affected members
Maria Gisatulin, Malco Rossi, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello
Parkinsonism & Related Disorders.2021; 89: 206. CrossRef
Involuntary Groaning Induced by Levodopa Therapy in a Patient With Progressive Supranuclear Palsy
Jung E. Park
JAMA Neurology.2020; 77(12): 1569. CrossRef
Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters
Shen-Yang Lim, Jia Lun Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Kai Bin Lim, Yi Wen Tay, Yee Lee Shing, Kalai Arasu Muthusamy, Peter Bauer, Arndt Rolfs, Christine Klein
Neurodegenerative Diseases.2020; 20(1): 39. CrossRef
The spectrum of involuntary vocalizations in humans: A video atlas
Tina Mainka, Bettina Balint, Felix Gövert, Lille Kurvits, Christoph van Riesen, Andrea A. Kühn, Marina A.J. Tijssen, Andrew J. Lees, Kirsten Müller‐Vahl, Kailash P. Bhatia, Christos Ganos
Movement Disorders.2019; 34(12): 1774. CrossRef

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy: Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris; J Mov Disord. 2018;11(2):89-92. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.17082

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We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient’s disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.

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Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn
Qiuhong Xiong, Huimin Sun, Yanlin Wang, Qian Xu, Yu Zhang, Mei Xu, Zhonghua Zhao, Ping Li, Changxin Wu
Lipids in Health and Disease.2024;[Epub] CrossRef
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
Autophagy.2022; 18(7): 1715. CrossRef
Cerebral Iron Deposition in Neurodegeneration
Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
Biomolecules.2022; 12(5): 714. CrossRef
Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
Neurobiology of Disease.2022; 175: 105920. CrossRef
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
Kiwako Tsukida, Shin-ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
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Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; : 1. CrossRef
Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
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Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J Hayflick
Developmental Medicine & Child Neurology.2021; 63(12): 1402. CrossRef
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Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
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Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
Robert V.V. Spaull, Audrey K.S. Soo, Penelope Hogarth, Susan J. Hayflick, Manju A. Kurian
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