Analyzing the classification of 767 GBA1 variants to guide GBA1 PD risk prediction
Objective: To assess the consistency of GBA1 variant classification across large Parkinson’s disease (PD) and Gaucher disease (GD) cohorts and determine how variant-specific biochemical data…LRRK2 G2019S Drives Lysosomal Lipid Remodeling and Inflammation in Human iPSC-Derived Microglia
Objective: The aim of this study is to elucidate disease-related metabolic and inflammatory pathways driven by LRRK2 G2019S in human iPSC-derived microglia. Background: Parkinson’s Disease…NPC2 is an Allele-Specific Modifier of GBA1-Associated Parkinson’s Disease Risk
Objective: To identify rare variant modifiers of GBA1-associated Parkinson's disease (PD) penetrance among lysosomal storage disorder (LSD) genes. Background: GBA1 is the most common large-effect…Adult-Onset Incomplete Kufor-Rakeb Syndrome Presenting with Parkinsonism: A Case Report
Objective: To report two adult-onset cases of slowly progressive Parkinson’s disease (PD) carrying a heterozygous pathogenic ATP13A2 variant. Background: ATP13A2 (PARK9) encodes a P-type ATPase…Hyperkinetic Movement Disorder as the First Manifestation of Gaucher Disease Type 3
Objective: Gaucher disease, an autosomal recessive lysosomal storage disorder, is caused by a deficiency of the enzyme glucocerebrosidase. This results in the accumulation of glucosylceramide…Genome-wide Discovery of GBA1 Modifiers in Parkinsons Disease Carriers across Populations from the Global Parkinsons Genetics Program
Objective: To identify genetic risk modifiers for GBA1 risk variant carriers of European and African ancestry, we used data from GP2 (http://gp2.org/), the UK Biobank,…The Allosteric Activator of Lysosomal Glucocerebrosidase VQ-101 Demonstrates Robust Evidence of Target and Pathway Engagement in People with Parkinson’s Disease: Results from a 6-Month Open-Label Extension Study
Objective: To evaluate the continued safety, pharmacokinetics (PK), and pharmacodynamics of VQ-101 in patients with Parkinson’s disease (PD) with and without a GBA1 mutation. Background:…Parkinsonism Revealing a Late Form of Niemann-Pick Disease About a Case
Objective: Niemann-Pick type B (NPB) is a rare, autosomal dominant hereditary disorder. Clinical presentation is primarily visceral. Neurological manifestations are rare, unlike in other types…Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…Characterizing Movement Disorders in Niemann-Pick Disease Type C -A Registry-Based Analysis with Findings from the International Niemann-Pick-Disease Registry (INPDR)
Objective: We aim to define the prevalence and phenotypic spectrum of movement disorders in Niemann-Pick Disease Type C (NPC), track motor and functional progression using…
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