Publications by authors named "L E Almaguer-Mederos"
Background: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease presenting with redox imbalance. However, the nature and implications of redox imbalance in SCA2 physiopathology have not been fully understood.
Objective: The objective of this study is to assess the redox imbalance and its association with disease severity in SCA2 mutation carriers.
Article Synopsis
- Large polyglutamine expansions in Ataxin-2 (ATXN2) lead to nervous system degeneration in Spinocerebellar Ataxia type 2 (SCA2) and can contribute to motor neuron disease like ALS, yet reducing ATXN2 can slow ALS progression.
- The study utilized a mouse model to explore spinal cord pathology, revealing sensory neuropathy and ATXN2 aggregates sequestering crucial proteins, alongside changes in various gene expression levels.
- Findings highlighted the involvement of cholesterol biosynthesis and identified potential new biomarkers and therapeutic targets for neuroprotection against these neurodegenerative conditions.
Background: Spinocerebellar ataxia type 2 is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Although weight loss has been associated with disease progression in several neurodegenerative conditions, it has been barely assessed in patients with spinocerebellar ataxia type 2.
Objective: The objective of this study was to test whether body mass index is altered in patients with spinocerebellar ataxia type 2 with varying expansion sizes from early to late disease stages.
Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Despite clinical and experimental evidence indicating the relevance of the gonadotropic axis to the prognosis and therapeutics for several late-onset neurodegenerative disorders, its functioning and association with disease severity have not been previously explored in SCA2. To assess serum levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH), and their clinical relevance in SCA2 patients.
View Article and Find Full Text PDFThe prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018.
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