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GBA1-Associated Parkinson’s Disease Is a Distinct Entity

International Journal of Molecular Sciences
GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that differentiate GBA1-PD from idiopathic Parkinson’s disease (iPD).
Per Svenningsson, Shoshana Revel-Vilk, Jan Lukas   +2 more
exaly   +3 more sources

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Imaging and genetics in Parkinson’s disease: assessment of the GBA1 mutation

Journal of Neurology, 2022
Several genetic variants are associated with an increased risk for developing Parkinson's Disease (PD) and limited genotype/phenotype correlation. Specifically, mutations in GBA1, the gene coding for the lysosomal enzyme glucocerebrosidase, are associated with an earlier age of onset and faster disease progression.
Sweta Ghatti, Esther Yoon, Grisel Lopez, Debra Ehrlich, Silvina G. Horovitz   +4 more
openaire   +2 more sources

Mitochondria–lysosome crosstalk in GBA1-associated Parkinson’s disease

3 Biotech, 2022
Organelle crosstalk is significant in regulating their respective functions and subsequent cell fate. Mitochondria and lysosomes are amongst the essential organelles in maintaining cellular homeostasis. Mitochondria-lysosome connections, which may develop dynamically in the human neurons, have been identified as sites of bidirectional communication ...
M. Sahyadri, Abhishek P. R. Nadiga, Seema Mehdi, K. Mruthunjaya, Pawan G. Nayak, Vipan K. Parihar, S. N. Manjula   +6 more
openaire   +2 more sources

Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey

Parkinsonism and Related Disorders
Glucosylceramidase beta 1 (GBA1) mutations are a genetic risk factor for Parkinson's disease (PD), though most carriers do not develop the disease. This study aimed to identify exposure factors linked to PD in GBA1 carriers and assess clinical features and the probability of prodromal PD in non-manifesting carriers.Data from the Parkinson's Disease ...
Jifeng Guo, Peishan Li
exaly   +3 more sources

A Novel Role for Glucocerebrosidase 1 (GBA1) in Parkinson’s Disease

The FASEB Journal, 2022
Parkinson’s disease (PD) is the second most common neurodegenerative disorder, yet the pathological mechanisms driving disease onset and progression are not well understood. Glucocerebrosidase 1 (GBA1), the gene encoding the lysosomal enzyme glucoslyceramidase (GCase), has been identified as the most important genetic risk factor ...
Jayabalan, Nanthini, Roper, Katherine Kerry, Woodhouse, Helen M., Adam, Robert J., O'Sullivan, John D., Gordon, Richard   +5 more
openaire   +2 more sources

Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson’s Disease Patients with GBA1 Mutations

International Journal of Molecular Sciences
Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives. The mechanisms of how GBA1 mutations contribute to PD pathogenesis remain unclear. Cerebrospinal fluid (CSF) is used for detecting pathological conditions of diseases, providing insights
Per Svenningsson, , Xiaoqun Zhang
exaly   +4 more sources

GBA1-associated parkinsonism: new insights and therapeutic opportunities

Current Opinion in Neurology, 2019
Purpose of review GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with Lewy Bodies (DLB).
Emory, Ryan, Gurpreet, Seehra, Pankaj, Sharma, Ellen, Sidransky   +3 more
openaire   +2 more sources

Classification of GBA1 Variants in Parkinson's Disease: The GBA1 ‐PD Browser

Movement Disorders, 2023
Abstract Background GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (
Sitki Cem Parlar, Francis P. Grenn, Jonggeol Jeffrey Kim, Cornelis Baluwendraat, Ziv Gan‐Or   +4 more
openaire   +1 more source

GBA1-and LRRK2-directed Treatments: The Way Forward

Parkinsonism & Related Disorders
There is an urgent need to identify drug targets for disease modification in Parkinson's Disease (PD). In this mini-review we highlight the reasons genetically-defined drug targets show great promise. Specifically, clinical trials targeting the glucocerebrosidase-1 (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes are underway.
Gadi Maayan Eshed, Roy N. Alcalay
openaire   +2 more sources

A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review

Genes
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease.
Christos Koros, Nikolaos Papagiannakis, Roubina Antonelou   +2 more
exaly   +4 more sources