Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias

San José de las Lajas, Cuba

Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias

San José de las Lajas, Cuba

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Hernandez-Castillo C.R.,University of Veracruz | Galvez V.,University of Veracruz | Mercadillo R.E.,Metropolitan Autonomous University | Diaz R.,National Autonomous University of Mexico | And 3 more authors.
Movement Disorders | Year: 2015

Background: Several neuropathological studies in spinocerebellar ataxia type 2 (SCA2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions in the frontal lobe. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is unknown. To analyze the clinical impact of these functional changes, we correlated the abnormal functional connectivity found in SCA2 patients with their scores in clinical scales. To obtain the functional connectivity changes, we followed two approaches. In one we used areas with significant cerebellar gray matter atrophy as anchor seeds, and in the other we performed a whole-brain data-driven analysis. Methods: Fourteen genetically confirmed SCA2 patients and aged-matched healthy controls participated in the study. Voxel-based morphometry and resting-state functional magnetic resonance imaging (fMRI) were done to analyze structural and functional brain changes. Independent component analysis and dual regression were used for intrinsic network comparison. Significant functional connectivity differences were correlated with the behavioral scores. Results: Seed-based analysis found reduced functional connectivity within the cerebellum and between the cerebellum and frontal/parietal cortices. Cerebellar functional connectivity increases were found with parietal, frontal, and temporal areas. Intrinsic network analysis found a functional decrease in the cerebellar network, and increase in the default-mode and fronto-parietal networks. Further analysis showed significant correlations between clinical scores and the abnormal functional connectivity strength. Conclusion: Our findings show significant correlations between functional connectivity changes in key areas affected in SCA2 and these patients' motor and neuropsychological impairments, adding an important insight to our understanding of the pathophysiology of SCA2. © 2015 International Parkinson and Movement Disorder Society.


Velazquez-Perez L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Garcia-Rodriguez J.C.,Centro Para La Produccion Of Animales Of Laboratorio | Sanchez-Cruz G.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Aguilera-Rodriguez R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 10 more authors.
Neurochemical Research | Year: 2011

Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO4 or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score,oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipid's oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects. © Springer Science+Business Media, LLC 2011.


PubMed | University of Veracruz, National Autonomous University of Mexico, Metropolitan Autonomous University and Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Movement disorders : official journal of the Movement Disorder Society | Year: 2015

Several neuropathological studies in spinocerebellar ataxia type 2 (SCA2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions in the frontal lobe. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is unknown. To analyze the clinical impact of these functional changes, we correlated the abnormal functional connectivity found in SCA2 patients with their scores in clinical scales. To obtain the functional connectivity changes, we followed two approaches. In one we used areas with significant cerebellar gray matter atrophy as anchor seeds, and in the other we performed a whole-brain data-driven analysis.Fourteen genetically confirmed SCA2 patients and aged-matched healthy controls participated in the study. Voxel-based morphometry and resting-state functional magnetic resonance imaging (fMRI) were done to analyze structural and functional brain changes. Independent component analysis and dual regression were used for intrinsic network comparison. Significant functional connectivity differences were correlated with the behavioral scores.Seed-based analysis found reduced functional connectivity within the cerebellum and between the cerebellum and frontal/parietal cortices. Cerebellar functional connectivity increases were found with parietal, frontal, and temporal areas. Intrinsic network analysis found a functional decrease in the cerebellar network, and increase in the default-mode and fronto-parietal networks. Further analysis showed significant correlations between clinical scores and the abnormal functional connectivity strength.Our findings show significant correlations between functional connectivity changes in key areas affected in SCA2 and these patients motor and neuropsychological impairments, adding an important insight to our understanding of the pathophysiology of SCA2.


Becerra-Garcia R.,University of Holguín | Garcia-Bermudez R.,University of Holguín | Garcia-Bermudez R.,Civil University Eloy Alfaro of Manabí | Joya-Caparros G.,University of Malaga | And 6 more authors.
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) | Year: 2015

In this paper we evaluate the use of the machine learning algorithms Support Vector Machines (SVM), K-Nearest Neighbors (KNN), Classification and Regression Trees (CART) and Naive Bayes (NB) to identify non spontaneous saccades in clinical electrooculography tests. Our approach tries to solve problems like the use of manually established thresholds present in classical methods like identification by velocity threshold (I-VT) or identification by dispersion threshold (I-DT). We propose a modification to an adaptive threshold estimation algorithm for detecting signal impulses without the need of any user input. Also, a set of features were selected to take advantage of intrinsic characteristics of clinical electrooculography tests. The models were evaluated with signals recorded to subjects affected by Spinocerebellar Ataxia type 2 (SCA2). Results obtained by the algorithm show accuracies over 97%, recalls over 97% and precisions over 91% for the four models evaluated. © Springer International Publishing Switzerland 2015.


Velazquez-Perez L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Rodriguez-Labrada R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Canales-Ochoa N.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Sanchez-Cruz G.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 7 more authors.
Journal of the Neurological Sciences | Year: 2010

Nerve conduction is profoundly affected in Spinocerebellar ataxia 2 (SCA2) even before the onset of the disease, but there is no information regarding its progression to the final stage of SCA2. In order to study the progression patterns of nerve conduction abnormalities in SCA2 we performed a prospective follow up evaluation of sensory and motor conduction in 21 SCA2 mutation carriers-initially presymptomatics- and 19 non-SCA2 mutation carriers during 20 years. The earliest electrophysiological alterations were the reduction of sensory amplitudes in median and sural nerves, which could be found 8 to 5 years prior disease onset and in the last 4 years of the preclinical stage respectively. These abnormalities were followed by the increase of sensory latencies and decrease of conduction velocities. Sensory amplitudes progressively decreased during the follow-up clinical stage, rendering almost all patients with abnormal amplitudes and lack of sensory potentials, with faster progression rates in patients with larger CAG repeat lengths. Peripheral motor nerves showed the later involvement. These findings were used to define three distinct stages that describe the progression of the peripheral neuropathy. We suggest that sensory amplitudes could be useful biomarkers to assess the progression of peripheral nerve involvement and therefore to evaluate future clinical trials of therapeutic agents. © 2009 Elsevier B.V. All rights reserved.


Vaca-Palomares I.,National Autonomous University of Mexico | Diaz R.,National Autonomous University of Mexico | Rodriguez-Labrada R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Medrano-Montero J.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 4 more authors.
Cerebellum | Year: 2013

There are different types of visuomotor learning. Among the most studied is motor error-based learning where the sign and magnitude of the error are used to update motor commands. However, there are other instances where individuals show visuomotor learning even if the sign ormagnitude of the error is precluded. Studies with patients suggest that the former learning is impaired after cerebellar lesions, while basal ganglia lesions disrupt the latter. Nevertheless, the cerebellar role is not restricted only to error-based learning, but it also contributes to several cognitive processes. Therefore, here, we tested if cerebellar ataxia patients are affected in two tasks, one that depends on error-based learning and the other that prevents the use of error-based learning. Our results showed that cerebellar patients have deficits in both visuomotor tasks; however, while errorbased learning tasks deficits correlated with the motor impairments, the motor error-dependent task did not correlate with any motor measure. © Springer Science+Business Media New York 2013.


Perez L.V.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Labrada R.R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Cruz G.S.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Mesa J.M.L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 10 more authors.
Revista Cubana de Salud Publica | Year: 2011

Introduction Cuba is one of the countries with high rates of prevalence and incidence of hereditary ataxias, which is a health problem that encouraged the foundation of the Center for Research and Rehabilitation of Hereditary Ataxias in Holguín province. Objectives To describe the main results, scientific achievements, intervention strategies and impacts of this institution for more than 10 years, as a sort of pattern to be followed to approach hereditary ataxias in Cuba in a more comprehensive way. Data source Pubmed-Medline and Scopus database were reviewed in which all the relevant articles published from 1978 to 2011 were analyzed. Spinocerebelar ataxia, highly specific and sensitive subject headings, were used for the topic under analysis. Data synthesis The prevalence of this disease has remained unchanged for 40 years, being extended to the whole island. Spinocerebelar ataxia type 2 mutation accounts for 60% of the phenotypical variability whereas the remaining 40% is caused by genetic and/or environmental modifying factors. Severe oxidative damage, reduction of neuroprotectors and of oligoelements have been described. The neurophysiological studies allowed defining evolutionary phases from the preclinical stagings as well as progression and genetic damage biomarkers. These results allowed designing several controlled clinical assays in search of one treatment protocol for the disease. Additionally, prenatal and pre-symptomatic diagnosis service is rendered, with positive impact on affected families. Conclusions The research studies on spinocerebelar ataxia type 2 in Cuba as a health problem have had comprehensive approach. The new breakthroughs on pathogeny, identification of biomarkers, clinical assays, prenatal and presymptomatic diagnosis allowed making a new Cuban model to approach hereditary ataxias and the study of other neurodegenerative diseases.


Roberto R.-L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Luis V.-P.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Revista Mexicana de Neurociencia | Year: 2013

Polyglutamine diseases comprise a group of neurodegenerative diseases caused by expansion of citosine-adenine-guanine (CAG) repeats in coding regions of specific genes. Among its phenotypical features, the saccadic abnormalities are very common. Saccades allow us to shift, rapidly and accurately, the attention from a target to other in the visual scene. Saccadic eye movements are generated by an extensive cortical-subcortical circuitry and they are usually used as important tools in basic and clinical researches of nervous central system. This paper presents an updated review of saccadic abnormalities in polyglutamine diseases, emphasizing in the usefulness of these features for diagnosis and disease biomarkers identifications. Saccadic abnormalities in polyglutamine diseases point out the marked vulnerability of saccadic system to CAG expansions. Its study allows us to identify useful parameters for early diagnosis and disease biomarkers for therapies evaluation. Nevertheless, other studies are mandatory to get deep into the pathophysiology of these oculomotor abnormalities.


PubMed | Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Journal of the neurological sciences | Year: 2010

Nerve conduction is profoundly affected in Spinocerebellar ataxia 2 (SCA2) even before the onset of the disease, but there is no information regarding its progression to the final stage of SCA2. In order to study the progression patterns of nerve conduction abnormalities in SCA2 we performed a prospective follow up evaluation of sensory and motor conduction in 21 SCA2 mutation carriers-initially presymptomatics- and 19 non-SCA2 mutation carriers during 20years. The earliest electrophysiological alterations were the reduction of sensory amplitudes in median and sural nerves, which could be found 8 to 5years prior disease onset and in the last 4years of the preclinical stage respectively. These abnormalities were followed by the increase of sensory latencies and decrease of conduction velocities. Sensory amplitudes progressively decreased during the follow-up clinical stage, rendering almost all patients with abnormal amplitudes and lack of sensory potentials, with faster progression rates in patients with larger CAG repeat lengths. Peripheral motor nerves showed the later involvement. These findings were used to define three distinct stages that describe the progression of the peripheral neuropathy. We suggest that sensory amplitudes could be useful biomarkers to assess the progression of peripheral nerve involvement and therefore to evaluate future clinical trials of therapeutic agents.


PubMed | Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Neurochemical research | Year: 2011

Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO(4) or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score, oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipids oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects.

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