Luís Velázquez

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Nine neurodegenerative diseases, collectively referred to as polyglutamine (polyQ) diseases, are caused by expansion of a coding CAG DNA trinucleotide repeat. PolyQ diseases show a strong inverse correlation between CAG repeat length and age of disease onset (AO). Despite this, individuals with identical repeat expansion alleles can have highly variable(More)
BACKGROUND The initial evaluations of the introduction of legislation that regulates smoking in enclosed public places in European countries, describe an important effect in the control of exposure to environmental tobacco smoke. However, the evidence is still limited. The objective of this study is to estimate the short-term effects of the comprehensive(More)
The objective of this work was the generation of an animal model of the SCA2 disease for future studies on the benefits of therapeutic molecules and neuropathological mechanisms that underline this human disorder. The transgenic fragment was microinjected into pronuclei of B6D2F1 X OF1 mouse hybrid strain. For Northern blots, RNAs were hybridized with a(More)
BACKGROUND A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2). OBJECTIVE To assess the(More)
Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after(More)
To identify possible factors affecting the psychological impact of pre-symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) the effect of previous experience with the disease in the family, (2) kinship with the closest affected relative and (3) gender of affected parent, when(More)
In this paper, we compare the performance of two different methods for the task of electrooculogram saccadic points classification in patients with Ataxia SCA2: Multilayer Perceptrons (MLP) and Random Forest. First we segment the recordings of 6 subjects into ranges of saccadic and non-saccadic points as the basis of supervised learning. Then, we randomly(More)
Spino Cerebellar Ataxia type 2 is an autosomal dominant cerebellar hereditary ataxia with the highest prevalence in Cuba. Typical symptoms in patients of SCA2 ataxia include modifications in latency, peak velocity, and deviation in visual saccadic movements. After applying some electro-oculography based tests to both healthy and SCA2 afflicted individuals,(More)