Publications by authors named "Catalina Cerquera-Cleves"
Recent advancements in Parkinson's disease (PD) drug development have been significantly driven by genetic research. Importantly, drugs supported by genetic evidence are more likely to be approved. While genome-wide association studies (GWAS) are a powerful tool to nominate genomic regions associated with certain traits or diseases, pinpointing the causal biologically relevant gene is often challenging.
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- Research indicates that pathological forms of Tau are present in both Huntington's disease (HD) patients and animal models, suggesting HD may be seen as a secondary tauopathy alongside its main cause, a mutation in the huntingtin gene.
- Experiments with zQ175 mice showed that injecting Tau fibrils led to cognitive and anxiety-like issues, as well as an increase in harmful mutant huntingtin aggregates in their brains.
- Further studies with striatal cells revealed that Tau fibrils impair cell functionality and alter levels of heat shock proteins Hsp70 and Hsp90, indicating potential disruptions in protein quality control and suggesting a complex relationship between Tau and mutant huntingtin in HD.
Article Synopsis
- Multiple studies have identified genetic factors linked to Alzheimer's and Parkinson's diseases, mostly in European populations, but evidence shows genetic variations exist across different ancestries.
- There are concerns that treatments developed based on European genetics may not be effective for Latino, Black/African American, and East Asian populations due to differing disease mechanisms.
- This study investigates the Population Attributable Risk (PAR) for Alzheimer's and Parkinson's by analyzing genetic data from various ancestries to promote inclusive and effective treatment strategies for neurodegenerative diseases.
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have taken place predominantly in European populations. Recent genetics research conducted in non-European populations has revealed novel population-specific genetic loci linked to PD risk, highlighting the importance of studying PD globally. These insights have broadened our understanding of PD etiology, which is crucial for developing disease-modifying interventions.
View Article and Find Full Text PDFIntroduction: A marked response to L-Dopa and L-Dopa-induced dyskinesia (LID) make the diagnosis of Parkinson's disease (PD) highly likely. This paper evaluates response to L-Dopa in Perry syndrome (PS), parkinsonism with distinct molecular and neuropathologic characteristics.
Methods: Six patients with PS with a mean follow-up of 5 years (0.
Background And Purpose: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease.
View Article and Find Full Text PDFCognitive and behavioral profile of Perry syndrome in two families.
Parkinsonism Relat Disord
August 2020
Objective: Perry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented.
View Article and Find Full Text PDFTo help address the scarcity of studies on the genetics of Parkinson's disease (PD) in Latin America, we screened 426 Ecuadorians with PD and 80 Colombians (PD = 55, Control = 26) for mutations within several PD-related genes. Among Colombians, we identified several variants within PARKIN and PINK1 genes.
View Article and Find Full Text PDFWe aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.
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