Publications by authors named "Tatiana Zaldivar-Vaillant"
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America.
Amyotroph Lateral Scler Frontotemporal Degener
February 2024
Article Synopsis
- The Latin American Epidemiologic study of ALS (LAENALS) focuses on understanding ALS by analyzing demographic data from Cuba, Chile, and Uruguay, particularly the genetic and environmental factors influencing the disease.
- Data was collected using a standardized protocol in each country between 2017 and 2019, with statistical analysis revealing varied incidence and prevalence rates across the three locations.
- Findings indicate that ALS incidence and prevalence are lower in populations with greater genetic diversity, and the LAENALS database is now available for further research in other Latin American countries.
Sandhoff disease in the elderly: a case study.
Amyotroph Lateral Scler Frontotemporal Degener
February 2022
Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. It belongs to the gangliosidosis GM2 group and is produced by mutations in gen leading to reduction in enzymatic activity of enzymes β-hexosaminidase A and B. Adult-onset GM2 gangliosidosis is rare.
View Article and Find Full Text PDFObjectives: This study compares the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) within three clinic-based populations from Cuba, Uruguay and Ireland and determines the impact of known ALS-associated genetic variants on phenotypic manifestations within the Cuban population.
Methods: Demographic and clinical information was collected on 115 Cuban, 220 Uruguayan and 1038 Irish patients with ALS attending national specialist clinics through 1996-2017. All Cuban patients and 676 Irish patients underwent next-generation DNA sequencing and were screened for the pathogenic repeat expansion.
Unlabelled: Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder, caused by an expanded trinucleotide CAG sequence of the huntingtin (Htt) gene, which encodes a stretch of glutamines in the Htt protein. The mechanisms of neurodegeneration associated with the accumulation of Htt aggregates still remains unclear.
Objectives: To determine oxidative stress biomarkers in HD patients and their relationship with clinical, demographic and neuroimaging parameters.