Classification of
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 +4 more
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GBA1-associated parkinsonism: new insights and therapeutic opportunities
Current Opinion in Neurology, 2019Purpose 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 +3 more
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Imaging and genetics in Parkinson’s disease: assessment of the GBA1 mutation
Journal of Neurology, 2022Several 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 +4 more
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Clinical Studies of GBA1 -associated Parkinsonism: Progress and Challenges
Neurodegenerative Disease Management, 2016Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA *Author for correspondence: Tel.: +1 301 451 0901 or 301 496 0373; Fax: +1 301 402 6438; sidranse@mail.nih.gov Mutations in glucocerebrosidase (GBA1), the gene mutated in the lysosomal storage disorder Gaucher disease ...
Grisel, Lopez +2 more
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GBA1-and LRRK2-directed Treatments: The Way Forward
Parkinsonism & Related DisordersThere 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
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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 ...
Xuxiang Zhang +15 more
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Parasympathetic Dysfunction Prevails in
AbstractBackgroundThe role played by sympathetic and parasympathetic autonomic branches in patients with Parkinson's disease carrying variants in the GBA1 gene (GBA‐PD) is still elusive.ObjectivesTo characterize cardiovascular autonomic function in GBA‐PD and I‐PD patients with early and mid‐stage disease.MethodsThese assessments were performed ...
Tiziana De Santis +7 more
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ZEBRAFISH AS A MODEL OF GLUCOCEREBROSIDASE 1 (GBA1) DEFICIENCY
Journal of Neurology, Neurosurgery & Psychiatry, 2015ObjectivesTo establish and characterise glucocerebrosidase 1 (GBA1) mutant zebrafish line.BackgroundHomozygous GBA1 mutations (GBA1−/−) cause Gaucher disease (GD), heterozygote GBA1 mutations (GBA+/−) are the most common risk factor for Parkinson's disease (PD).
Marcus Keatinge +6 more
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Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease
Parkinsonism & Related DisordersMild cognitive impairment (MCI) is common in Parkinson's disease (PD). We aimed to assess the incidence of MCI among patients with PD, carriers of mutations in LRRK2 and GBA1 genes, based on the movement disorder society (MDS) criteria for the diagnosis of MCI in early-stage PD.Patients with PD were included if they scored ≤2 on the Hoehn and Yahr and ≤
Avner Thaler +13 more
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Targeting protein clearance pathways in GBA1-associated Parkinson disease
Expert Opinion on Therapeutic Targets, 2022Chase, Chen +3 more
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