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…Genotype Matters: Vagus Nerve Atrophy in GBA-Associated Parkinson’s Disease
Objective: The aim of this study is to compare the right and left vagus nerve (VN) cross-sectional area (CSA) and autonomic symptoms in patients with…Natural History of Sialidosis Type I: A Prospective Longitudinal Follow-Up Study of Clinical and Electrophysiological Markers
Objective: We performed a prospective analysis to determine the natural history as well as changes of electrophysiological markers in a cohort of Sialidosis type I.…GBA1 L444P mutation increases susceptibility to neuroinflammation and promotes pro-inflammatory immune responses
Objective: To determine whether the GBA1 L444P mutation increases susceptibility to neuroinflammation and alters immune responses during CNS inflammatory challenge. Background: Mutations in GBA1, which…GBA1 deficiency promotes tau and TDP-43 co-pathology
Objective: To determine whether mutations in the gene beta-glucocerebrosidase 1 (GBA1), the strongest genetic risk factor for PD, promote tau and TDP-43 co-pathology alongside Lewy…
- 1
- 2
- 3
- …
- 10
- Next Page »