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.

Evaluación preliminar del efecto del Compvit-B sobre procesos de memoria y aprendizaje en pacientes con SCA2 / Preliminary evaluation of the effect of Compvit-B on memory and learning processes in patients with SCA2

Introducción: la ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa que alcanza las mayores tasas de prevalencia e incidencia en Holguín, Cuba. Una de las principales manifestaciones clínicas de estos pacientes son los trastornos cognitivos, expresados fundamentalmente como déficits frontoejecutivos y de la memoria. Objetivo: evaluar el efecto del tratamiento con vitaminas del Complejo B sobre las funciones cognitivas, en pacientes cubanos con SCA2. Métodos: se incluyeron 20 pacientes en una investigación de intervención clínica, empleando COMPVIT-B, durante 3 meses. Se evaluaron parámetros clínicos, como la escala SARA y cognitivos como el test de Stroop, el test de Fluencia verbal fonológica y el test de memoria verbal. Todos los estudios se realizaron antes y después del tratamiento. Resultados: el estudio de las funciones frontoejecutivas reveló un aumento significativo del número de palabras mencionadas en el test de fluencia verbal fonológica, al terminar el estudio. Sin embargo, el test de Stroop no mostró cambios significativos. En relación al test de memoria verbal, se obtuvo un aumento del número de palabras recordadas en el primer ensayo, así como reducción del número de ensayos requeridos para recordar todas las palabras. La puntuación de la escala SARA no cambió significativamente. Conclusiones: el presente trabajo constituye una evidencia adicional en favor del uso terapéutico y neuroprotector de las vitaminas del complejo B e identifica una nueva opción de tratamiento sintomatológico para los enfermos con SCA2, lo que incide positivamente en el mejoramiento de la calidad de vida de estos pacientes(AU)

Introduction: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease with the highest prevalence and incidence rates in the province of HolguÝn, Cuba. One of its main clinical manifestations is cognitive disorders, fundamentally expressed as frontal-executive and memory deficits. Objective: Evaluate the effect of B-complex vitamins on cognitive functions in Cuban patients with SCA2. Methods: Twenty patients were included in a clinical intervention study based on the use of Compvit-B for 3 months. An evaluation was conducted of clinical parameters such as the Scale for the Assessment and Rating of Ataxia (SARA), and cognitive parameters like the Stroop test, the phonological verbal fluency test and the verbal memory test. All the studies were conducted before and after the treatment. Results: The study of frontal-executive functions revealed a significant increase in the number of words mentioned in the phonological verbal fluency test at the end of the study. However, the Stroop test did not show any significant change. The verbal memory test showed an increase in the number of words recalled in the first assay, and a reduction in the number of assays required to recall all the words. Scores on the SARA did not change significantly. Conclusions: The paper provides additional evidence in support of the therapeutic and neuroprotective use of B-complex vitamins and presents a new option of symptomatic treatment for patients with SCA2, which will lead to an improvement in their quality of life(AU)

Evaluación preliminar del efecto del Compvit-B sobre procesos de memoria y aprendizaje en pacientes con SCA2 / Preliminary evaluation of the effect of Compvit-B on memory and learning processes in patients with SCA2

INTRODUCCIÓN: la ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa que alcanza las mayores tasas de prevalencia e incidencia en Holguín, Cuba. Una de las principales manifestaciones clínicas de estos pacientes son los trastornos cognitivos, expresados fundamentalmente como déficits frontoejecutivos y de la memoria. OBJETIVO: evaluar el efecto del tratamiento con vitaminas del Complejo B sobre las funciones cognitivas, en pacientes cubanos con SCA2. MÉTODOS: se incluyeron 20 pacientes en una investigación de intervención clínica, empleando COMPVIT-B, durante 3 meses. Se evaluaron parámetros clínicos, como la escala SARA y cognitivos como el test de Stroop, el test de Fluencia verbal fonológica y el test de memoria verbal. Todos los estudios se realizaron antes y después del tratamiento. RESULTADOS: el estudio de las funciones frontoejecutivas reveló un aumento significativo del número de palabras mencionadas en el test de fluencia verbal fonológica, al terminar el estudio. Sin embargo, el test de Stroop no mostró cambios significativos. En relación al test de memoria verbal, se obtuvo un aumento del número de palabras recordadas en el primer ensayo, así como reducción del número de ensayos requeridos para recordar todas las palabras. La puntuación de la escala SARA no cambió significativamente. CONCLUSIONES: el presente trabajo constituye una evidencia adicional en favor del uso terapéutico y neuroprotector de las vitaminas del complejo B e identifica una nueva opción de tratamiento sintomatológico para los enfermos con SCA2, lo que incide positivamente en el mejoramiento de la calidad de vida de estos pacientes.

INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease with the highest prevalence and incidence rates in the province of Holguín, Cuba. One of its main clinical manifestations is cognitive disorders, fundamentally expressed as frontal-executive and memory deficits. OBJECTIVE: Evaluate the effect of B-complex vitamins on cognitive functions in Cuban patients with SCA2. METHODS: Twenty patients were included in a clinical intervention study based on the use of Compvit-B for 3 months. An evaluation was conducted of clinical parameters such as the Scale for the Assessment and Rating of Ataxia (SARA), and cognitive parameters like the Stroop test, the phonological verbal fluency test and the verbal memory test. All the studies were conducted before and after the treatment. RESULTS: The study of frontal-executive functions revealed a significant increase in the number of words mentioned in the phonological verbal fluency test at the end of the study. However, the Stroop test did not show any significant change. The verbal memory test showed an increase in the number of words recalled in the first assay, and a reduction in the number of assays required to recall all the words. Scores on the SARA did not change significantly. CONCLUSIONS: The paper provides additional evidence in support of the therapeutic and neuroprotective use of B-complex vitamins and presents a new option of symptomatic treatment for patients with SCA2, which will lead to an improvement in their quality of life.