Publications by authors named "Luis Enrique Almaguer-Mederos"
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.
Article Synopsis
- Cuba has the highest number of people with spinocerebellar ataxia type 2 (SCA2) in the world and many of their family members might also get it.
- A program for genetic counseling and testing for SCA2 started in Cuba in 2001 and looked at the medical records of 58 couples over 11 years.
- Most of the couples were already known to be at risk, and when testing their unborn babies, 71% of those who found out their babies would have SCA2 chose to end the pregnancy, while others decided to continue.
The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 prevalence is related to the frequency of large ANs. SCA2 shows the highest worldwide prevalence in Cuban population, which is therefore a unique source for studying the relationship between the frequency of large and intermediate alleles and the frequency of SCA2 mutation.
View Article and Find Full Text PDFSpinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, peripheral neuropathy, cognitive disorders, and other multisystem features. SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. Worldwide, SCA2 is the second most frequent type of spinocerebellar ataxia, only surpassed by SCA3.
View Article and Find Full Text PDFArticle Synopsis
- Predictive testing helps people with hereditary conditions understand their health and make choices about having kids.
- Some tricky ethical problems come up for doctors and patients that can make decisions harder.
- The paper talks about five cases from Cuba showing these tough situations and suggests we need better rules to deal with them.
The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2. Clinical assessments were performed by neurological examinations and application of the SARA scale. Molecular analyses of genes SCA1-3, SCA6, SCA17 and DRPLA identified 753 patients with SCA and 7173 asymptomatic relatives, belonging to 200 unrelated families.
View Article and Find Full Text PDFOlfactory function is affected in different neurodegenerative diseases. Recently, it has been found that some hereditary ataxias are also associated with significant olfactory impairment. However, the initial findings did not examine the nature of the olfactory impairment associated with these ataxias.
View Article and Find Full Text PDF