Amyotroph Lateral Scler Frontotemporal Degener
February 2024
Amyotroph Lateral Scler Frontotemporal Degener
August 2022
There is evolving evidence of non-uniform distribution of ALS worldwide, with apparently lower incident and prevalent rates outside populations of European origin. However, the phenotype, survival and environmental risk in populations of mixed ancestral origin have not been well established. Large scale population based studies of incidence, prevalence, phenotype and risk factors in admixed populations are necessary to determine the true demography of ALS, and to test the hypothesis of differential risk and phenotype in populations of mixed ancestry.
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.
Introduction: The cognitive disorders presented by patients with Parkinson s disease (PD) have drawn attention to the role played by the basal ganglia in cognition. It has been suggested that through a system of cortico subcortical circuits they monitor the work done by the frontal regions by guiding the anterior and posterior attentional systems, whose functioning is necessary for the so called executive functions to be carried out.
Patients And Methods: We studied 10 patients with PD in developmental stages I and II according to the scale of Hoehn and Yahr, and 10 healthy paired controls.