- Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
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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
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J Mov Disord. 2024;17(2):213-217. Published online January 31, 2024
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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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Citations
Citations to this article as recorded by 
- Parkinson’s Disease is Predominantly a Genetic Disease
Shen-Yang Lim, Christine Klein Journal of Parkinson’s Disease.2024; 14(3): 467. CrossRef - Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
Adeline Su Lyn Ng, Ai Huey Tan, Yi Jayne Tan, Jia Lun Lim, Michelle Mulan Lian, Alfand Marl Dy Closas, Azlina Ahmad‐Annuar, Shanthi Viswanathan, Yuen Kang Chia, Jia Nee Foo, Weng Khong Lim, Eng‐King Tan, Shen‐Yang Lim Movement Disorders.2024; 39(10): 1829. CrossRef - Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
Emma N. Somerville, Ziv Gan-Or Expert Review of Molecular Diagnostics.2024; 24(12): 1111. CrossRef
- Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy
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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
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J Mov Disord. 2022;15(2):106-114. Published online December 24, 2021
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DOI: https://doi.org/10.14802/jmd.21085
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- 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.
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Citations
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Nishant Sharma, Monika Sharma, Disha Thakkar, Hemant Kumar, Sona Smetanova, Lucie Buresova, Petr Andrla, Amit Khairnar ACS Pharmacology & Translational Science.2025;[Epub] CrossRef - A Novel Rat Model for Inflammatory Gut–Brain Interactions in Parkinson's Disease
Grace E. Kendall, Conor F. Underwood, Louise C. Parr‐Brownlie European Journal of Neuroscience.2025;[Epub] CrossRef - 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
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Paul-Ștefan Panaitescu, Vlad Răzniceanu, Ștefania-Maria Mocrei-Rebrean, Vlad Sever Neculicioiu, Hanna-Maria Dragoș, Carmen Costache, Gabriela Adriana Filip Current Issues in Molecular Biology.2024; 46(5): 3946. CrossRef - Gut Microbes Associated with Neurodegenerative Disorders: A Comprehensive Review of the Literature
Christos Koutsokostas, Ermis Merkouris, Apostolos Goulas, Konstantina Aidinopoulou, Niki Sini, Theofanis Dimaras, Dimitrios Tsiptsios, Christoph Mueller, Maria Nystazaki, Konstantinos Tsamakis Microorganisms.2024; 12(8): 1735. CrossRef - Advice to People with Parkinson’s in My Clinic: Probiotics and Prebiotics
Jia Wei Hor, Tzi Shin Toh, Shen-Yang Lim, Ai Huey Tan Journal of Parkinson’s Disease.2024; 14(7): 1507. CrossRef - Faecal intestinal permeability and intestinal inflammatory markers in older adults with age-related disorders: A systematic review and meta-analysis
Nurul Izzati Ahmad Fadzuli, Siong Meng Lim, Chin Fen Neoh, Abu Bakar Abdul Majeed, Maw Pin Tan, Hui Min Khor, Ai Huey Tan, Kalavathy Ramasamy Ageing Research Reviews.2024; 101: 102506. CrossRef - Importance of Inflammatory Markers in the Evolution of Parkinson Disease Patients with Device Aided Therapies (Mini-Series of Cases)
Cristina Ramona Tase, Any Axelerad, Andra-Iulia Suceveanu ARS Medica Tomitana.2024; 30(2): 61. 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
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