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Jia Wei Hor 2 Articles
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
  • 1,774 View
  • 63 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
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
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
  • 6,329 View
  • 350 Download
  • 12 Web of Science
  • 13 Crossref
AbstractAbstract PDFSupplementary 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  
  • 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
  • The Effect of Gut Microbiota-Targeted Interventions on Neuroinflammation and Motor Function in Parkinson’s Disease Animal Models—A Systematic Review
    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
  • 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

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