Journal of Movement Disorders

Christine Klein

2 Articles

GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy: Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung; J Mov Disord. 2023;16(3):261-278. Published online June 12, 2023; DOI: https://doi.org/10.14802/jmd.23023

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Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.

Citations

Citations to this article as recorded by

Male sex accelerates cognitive decline in GBA1 Parkinson’s disease
Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente
npj Parkinson's Disease.2025;[Epub] CrossRef
Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review
Malco Rossi, Susen Schaake, Tatiana Usnich, Josephine Boehm, Nina Steffen, Nathalie Schell, Clara Krüger, Tuğçe Gül‐Demirkale, Natascha Bahr, Teresa Kleinz, Harutyun Madoev, Björn‐Hergen Laabs, Ziv Gan‐Or, Roy N. Alcalay, Katja Lohmann, Christine Klein
Movement Disorders.2025;[Epub] CrossRef
Challenges in Gaucher disease: Perspectives from an expert panel
Gregory A. Grabowski, Priya S. Kishnani, Roy N. Alcalay, S. Grace Prakalapakorn, Barry E. Rosenbloom, Dominick A. Tuason, Neal J. Weinreb
Molecular Genetics and Metabolism.2025; 145(1): 109074. CrossRef
Acetal functionalized iminosugars for targeting β-glucocerebrosidase modulation
Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Martina Cacciarini, Damiano Tanini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona
European Journal of Medicinal Chemistry.2025; 290: 117529. CrossRef
Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant
Jin Hwangbo, Myung Jun Lee, Sang Jin Kim, Hyun Kyung Park, Jae-heyok Lee
Frontiers in Neurology.2025;[Epub] CrossRef
A drug screening platform for protein expression levels in neurological disorders
Farida Emran, Ibrahim Kays, Chiu-An Lo, Yueyang Li, Brian E. Chen
BioTechniques.2025; : 1. CrossRef
A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
International Journal of Molecular Sciences.2024; 25(3): 1827. CrossRef
Towards a Global View of Parkinson's Disease Genetics
Marzieh Khani, Catalina Cerquera‐Cleves, Mariam Kekenadze, Peter Wild Crea, Andrew B. Singleton, Sara Bandres‐Ciga
Annals of Neurology.2024; 95(5): 831. CrossRef
Exploring the Association between Cathepsin B and Parkinson’s Disease
Changhao Lu, Xinyi Cai, Shilin Zhi, Xiaofen Wen, Jiaxin Shen, Tommaso Ercoli, Elena Rita Simula, Carla Masala, Leonardo A. Sechi, Paolo Solla
Brain Sciences.2024; 14(5): 482. CrossRef
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo
Translational Neurodegeneration.2024;[Epub] CrossRef
Microglia: roles and genetic risk in Parkinson’s disease
Alex R. Trainor, Debra S. MacDonald, Jay Penney
Frontiers in Neuroscience.2024;[Epub] CrossRef

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
New insights from a Malaysian real-world deep brain stimulation cohort
Alfand Marl F. Dy Closas, Ai Huey Tan, Yi Wen Tay, Jia Wei Hor, Tzi Shin Toh, Jia Lun Lim, Choey Yee Lew, Chun Yoong Cham, Carolyn Chue Wai Yim, Kok Yoon Chee, Chong Guan Ng, Lei Cheng Lit, Anis Nadhirah Khairul Anuar, Lara M. Lange, Zih-Hua Fang, Sara Ba
Journal of Parkinson’s Disease.2024;[Epub] 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

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