Publications by authors named "Alejandro Martinez-Carrasco"
Background: α-synuclein seed amplification assay (SAA) positivity has been proposed as a diagnostic biomarker for Parkinson's disease. However, studies of the prognostic value of this biomarker have been limited to small, single-centre studies over short follow-up periods. We aimed to assess the diagnostic and prognostic value of quantitative CSF α-synuclein SAA kinetic measures in Parkinson's disease.
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- - Up to 80% of patients with Parkinson's disease experience dementia, but the timing varies widely, and the relationship between Parkinson's disease dementia and dementia with Lewy bodies is still debated.
- - A study analyzed genetic data from 7804 patients to investigate how genetic factors influence the development of dementia in Lewy body diseases, revealing certain risk and protective alleles.
- - Key findings include the identification of the risk allele rs429358, which increases the odds of developing dementia, and protective alleles near specific genes that may help prevent it, highlighting the need for further research with confirmed cases.
Genome-wide determinants of mortality and motor progression in Parkinson's disease.
NPJ Parkinsons Dis
June 2024
Article Synopsis
- * A study involving 6,766 PD patients over several years examined how genetic factors influence motor progression and mortality, revealing the APOE ε4 allele as significantly impacting mortality rates.
- * Four new genetic loci were identified, linked to motor progression, suggesting potential targets for future treatment strategies in PD, although further investigation is necessary to understand their biological implications.
Article Synopsis
- Pick's disease is a rare form of frontotemporal dementia characterized by Pick bodies in the brain, which are linked to the MAPT gene and its haplotypes, H1 and H2.
- The study aimed to investigate how the MAPT H2 haplotype influences the risk, age of onset, and duration of Pick's disease.
- Data was collected from 338 individuals with confirmed Pick's disease across multiple sites, and associations of MAPT variants with the disease were analyzed using statistical models.
The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia.
View Article and Find Full Text PDFGenetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
NPJ Parkinsons Dis
August 2023
Article Synopsis
- The study investigates the genetic factors contributing to levodopa-induced dyskinesia (LiD) in Parkinson's disease (PD) patients, involving a meta-analysis of five cohorts with 2784 participants.
- Researchers found that being female and having a younger age at onset increased the likelihood of developing LiD and identified three significant genetic loci associated with LiD onset.
- Additionally, baseline anxiety levels and genetic variability in specific genes (ANKK1 and BDNF) were linked to the timing of LiD development, indicating complex interactions between genetics and psychological factors in PD.
Genome-wide Analysis of Motor Progression in Parkinson Disease.
Neurol Genet
October 2023
Background And Objectives: The genetic basis of Parkinson disease (PD) motor progression is largely unknown. Previous studies of the genetics of PD progression have included small cohorts and shown a limited overlap with genetic PD risk factors from case-control studies. Here, we have studied genomic variation associated with PD motor severity and early-stage progression in large longitudinal cohorts to help to define the biology of PD progression and potential new drug targets.
View Article and Find Full Text PDFImportance: Forty percent of Parkinson's disease patients develop levodopa-induced-dyskinesia (LiD) within 4 years of starting levodopa. The genetic basis of LiD remains poorly understood, and there have been few well powered studies.
Objective: To discover common genetic variants in the PD population that increase the probability of developing LiD.
Background: Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the gene.
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- * A virtual 3-day hackathon brought together 49 early-career scientists from 12 countries, focusing on building tools and pipelines specifically for PD research, with each team working on one of nine distinct projects.
- * The hackathon not only generated resources to enhance research but also provided training and networking opportunities, ultimately fostering creative problem-solving and collaboration essential for emerging researchers in data science.
Parkinson's disease is one of the most common age-related neurodegenerative disorders. Although predominantly a motor disorder, cognitive impairment and dementia are important features of Parkinson's disease, particularly in the later stages of the disease. However, the rate of cognitive decline varies among Parkinson's disease patients, and the genetic basis for this heterogeneity is incompletely understood.
View Article and Find Full Text PDFOver the last decades, genetics has been the engine that has pushed us along on our voyage to understand the etiology of Parkinson's disease (PD). Although a large number of risk loci and causative mutations for PD have been identified, it is clear that much more needs to be done to solve the missing heritability mystery. Despite remarkable efforts, as a field, we have failed in terms of diversity and inclusivity.
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