Publications by authors named "J Hernandez-Vara"
Article Synopsis
- Variants in the GBA1 gene lead to changes in sphingolipid levels, which are lipid molecules important for cell function.
- A study analyzed five specific sphingolipid species in the cerebrospinal fluid (CSF) of individuals with Parkinson's Disease and Dementia with Lewy bodies, both with and without GBA1 variants, as well as healthy controls.
- The results showed no increase in sphingolipid levels in participants with the GBA1 variant and no link to cognitive decline, indicating that these sphingolipids are not useful as indicators of Parkinson's Disease.
Article Synopsis
- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
Evaluation of a Liquid Chromatography-Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson's Disease Patients.
Anal Chem
August 2024
Mutations in GBA1, encoding glucocerebrosidase beta 1 (GCase), are the most common genetic risk factor for Parkinson's disease (PD). GCase dysfunction leads to an accumulation of glucosylceramide (GluCer) substrates in different organs and fluids. Despite the challenges in quantifying GluCer isoforms in biological samples, their potential clinical interest as PD biomarkers justifies the development of robust assays.
View Article and Find Full Text PDFBackground: Levodopa-induced dyskinesias (LID) are frequent in Parkinson's disease (PD).
Objective: To analyze the change in the frequency of LID over time, identify LID related factors, and characterize how LID impact on patients' quality of life (QoL).
Patients And Methods: PD patients from the 5-year follow-up COPPADIS cohort were included.
Safety and efficacy of continuous subcutaneous levodopa-carbidopa infusion (ND0612) for Parkinson's disease with motor fluctuations (BouNDless): a phase 3, randomised, double-blind, double-dummy, multicentre trial.
Lancet Neurol
May 2024
Background: Conventional oral levodopa therapy for the treatment of Parkinson's disease can be associated with variations in plasma concentrations. Levodopa infusion strategies might provide more consistent drug delivery and fewer motor fluctuations. We aimed to assess the safety and efficacy of a continuous 24 h/day subcutaneous infusion of ND0612 (a levodopa-carbidopa solution) compared with oral immediate-release levodopa-carbidopa for the treatment of motor fluctuations in people with Parkinson's disease.
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