Eye Movement Abnormalities in Neurodegenerative Diseases

Neurodegenerative disorders consist in heterogeneous group of neurological conditions characterized by a wide spectrum of clinical features resulting from a progressive involvement of distinct neuron populations. Oculomotor abnormalities take a key place in the clinical picture of these disorders because the neurodegenerative processes involve the brain circuits of eye movements. The most common abnormalities include the saccadic dysfunction, fixation instability, and abnormal smooth pursuit. The clinical assessment of oculomotor function can help to differentiate diagnosis, while electrophysiological measures provide useful biomarkers for the understanding of disease physiopathology and progression. In this chapter, we review the state of the art of the eye movement’s deficits in some neurodegenerative diseases, such as Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, Huntington’s disease, and the hereditary ataxias

Indicadores biomecánicos para el estudio de la marcha en pacientes con Ataxia Espinocerebelosa tipo 2, en estadio I (Original)

In this paper are shows the results of an investigation developed in our center. The observation processes, documental revision and interviews to professionals of the Center of Investigation and Rehabilitation of the Hereditary Ataxias and of the Institute of Physical Culture and Sports of the University of Holguín, they allowed, as a result final, the making of a pamphlet of indicative biomechanics for the study of the march in patient with Ataxia Espinocerebelosa type 2, in stadium I. By means of the bibliographical revision you could verify that you lack a specific document that contains these indicators, because each investigator uses them according to his interests and possibilities. In this investigation it was carried out a selection of indicative biomecánicos <cinematic and dynamic>, as well as, their control methods and the values index them found in the bibliography. The application of the technique of search of consent nominal Group allowed to verify the relevancy of the same ones for their practical application.En el presente trabajo se exponen los resultados de una investigación desarrollada en nuestra facultad. Los procesos de observación, revisión documental y entrevistas a profesionales del Centro de Investigación y Rehabilitación de las Ataxias Hereditarias y de la Facultad de Cultura Física y Deportes de la Universidad de Holguín, permitieron, como resultado final, la confección de un folleto de indicadores biomecánicos para el estudio de la marcha en pacientes con Ataxia Espinocerebelosa tipo 2, en estadio I. Mediante la revisión bibliográfica se pudo constatar que se carece de un documento específico que contenga estos indicadores, debido a que cada investigador los utiliza de acuerdo a sus intereses y posibilidades. En esta investigación se realizó una selección de indicadores biomecánicos <cinemáticos y dinámicos>, así como, sus métodos de control y los valores referenciales encontrados en la bibliografía. La aplicación de la técnica de búsqueda de consenso Grupo nominal permitió constatar la pertinencia de los mismos para su aplicación en la práctica

Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2

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. Methods. A case-control study was conducted involving molecularly confirmed SCA2 patients, presymptomatic individuals, and healthy controls. Several antioxidant parameters were assessed, including serum thiol concentration and the superoxide dismutase, catalase, and glutathione S-transferase enzymatic activities. Also, several prooxidant parameters were evaluated, including thiobarbituric acid-reactive species and protein carbonyl concentrations. Damage, protective, and OXY scores were computed. Clinical correlates were established. Results. Significant differences were found between comparison groups for redox markers, including protein carbonyl concentration (F=3.30; p=0.041), glutathione S-transferase activity (F=4.88; p=0.009), and damage (F=3.20; p=0.045), protection (F=12.75; p<0.001), and OXY (F=7.29; p=0.001) scores. Protein carbonyl concentration was positively correlated with CAG repeat length (r=0.27; p=0.022), while both protein carbonyl concentration (r=−0.27; p=0.018) and OXY score (r=−0.25; p=0.013) were inversely correlated to the disease duration. Increasing levels of antioxidants and decreasing levels of prooxidant parameters were associated with clinical worsening. Conclusions. There is a disruption of redox balance in SCA2 mutation carriers which depends on the disease stage. Besides, redox changes associate with markers of disease severity, suggesting a link between disruption of redox balance and SCA2 physiopathology