Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2 / An approach to nutritional intake in patients with Spinocerebellar Ataxia type 2

Introducción: La Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa y hereditaria. No se ha realizado ningún estudio para la caracterización de la ingesta nutricional en pacientes cubanos con SCA2. Objetivo: Comprobar la reproducibilidad y fiabilidad del método de recordatorio de 24 horas para la evaluación de la ingesta nutricional en pacientes cubanos con SCA2, y obtener una caracterización preliminar de la misma en estos pacientes. Material y Métodos: Se realizó un estudio transversal con test-retest que incluyó 35 pacientes con diagnóstico de SCA2. Se empleó el cuestionario dietético de recordatorio de 24 horas incorporado al sistema CERES+. Resultados: Se obtuvieron correlaciones altamente significativas entre la primera y segunda mediciones para la ingesta estimada de energía, nutrientes y según grupos de alimentos. En la mayoría de los elementos relativos a la ingesta estimada de energía y nutrientes, y en todos los grupos de alimentos, se obtuvieron coeficientes de correlación intraclase (0,75. Se obtuvieron diferencias significativas entre pacientes de sexo masculino o femenino en cuanto a la ingesta de proteínas, carbohidratos, cobalamina, hierro, sodio y cinc. Se obtuvo un incremento en la ingesta de sodio y una disminución en la ingesta de ácido fólico y cobre, con respecto a las recomendaciones de ingesta nutricional diaria para la población cubana. Conclusiones: Se comprobó la elevada reproducibilidad y fiabilidad del cuestionario dietético recordatorio de 24 horas para la evaluación de la ingesta nutricional en pacientes con SCA2 y se logró una caracterización preliminar de la ingesta nutricional en estos pacientes(AU)

Introduction: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and inherited disorder. No study has been conducted to characterize nutritional intake in Cuban SCA2 patients. Objective: To test the reproducibility and reliability of the 24-hour dietary recall method for the assessment of nutritional intake in Cuban patients with SCA2, as well as to obtain a preliminary characterization of nutritional intake in these patients. Material and Methods: A cross-sectional test-retest study was conducted on 35 SCA2 patients. The 24-hour dietary recall questionnaire in the CERES+ system was used. Results: Highly significant correlations between the first and second measurements were obtained for energy and nutrients intake, and according to food groups. Intraclass correlation coefficients higher than 0.75 were obtained for energy and most of the nutrients and according to food groups. Significant differences were obtained between male and female patients in terms of proteins, carbohydrates, cobalamin, iron, sodium, and zinc intake. An increase in sodium intake and a decrease in folic acid and copper intake were obtained. SCA2 patients showed increased sodium intake, and decreased folic acid and copper intake relative to nutritional intake recommendations for the Cuban population. Conclusions: The 24-hour recall dietary questionnaire is reproducible and reliable for the assessment of nutritional intake in SCA2 patients. Preliminary characterization of nutritional intake in SCA2 patients was obtained(AU)

Relevancia del metabolismo del folato en el contexto de enfermedades neurodegenerativas / Relevance of folate metabolism in neurodegenerative disorders

Introducción: Varias enfermedades neurodegenerativas están asociadas a alteraciones en el metabolismo del folato, lo que tiene sustanciales implicaciones fisiopatológicas, clínicas y terapéuticas potenciales. Objetivo: Reflejar la relevancia del metabolismo del folato para enfermedades neurodegenerativas, destacando su significación fisiopatológica y clínica, y sus implicaciones terapéuticas. Material y métodos: Se consultaron las bases de datos especializadas en busca de artículos publicados hasta marzo de 2020. Se emplearon descriptores específicos y operadores booleanos. Se empleó la estrategia de búsqueda avanzada para la selección de los artículos, teniendo en cuenta la calidad metodológica o validez de los estudios. Desarrollo: Fueron identificadas evidencias de asociación entre alteraciones del metabolismo del folato y enfermedades neurodegenerativas. Se han identificado variantes en genes que codifican enzimas involucradas en el metabolismo del folato, y modificaciones en patrones de metilación de ADN, asociadas al riesgo o a la gravedad clínica de las enfermedades de Alzheimer, Parkinson, Huntington, Temblor Esencial y Ataxia Espinocerebelosa tipo 2. Fueron encontradas asociaciones entre enfermedades neurodegenerativas y alteraciones en los niveles de metabolitos del folato, y la frecuencia de micronúcleos. Se han realizado varios estudios observacionales o experimentales que indican que la suplementación con ácido fólico y vitaminas B6 y B12, tiene utilidad terapéutica potencial en el contexto de enfermedades neurodegenerativas. Conclusiones: El metabolismo del folato es de relevancia fisiopatológica, clínica y terapéutica para enfermedades neurodegenerativas. El uso de estrategias dirigidas a restaurar los niveles normales de folatos o de co-factores enzimáticos involucrados en el metabolismo del folato, o a reducir la acumulación de homocisteína, tiene potenciales aplicaciones terapéuticas en el contexto de estas enfermedades(AU)

Introduction: Several neurodegenerative disorders are associated with alterations in folate metabolism, having essential physiopathological, clinical and therapeutic implications. Objective: To assess the relevance of folate metabolism in neurodegenerative disorders, highlighting its physiopathological, clinical and therapeutic significance. Material and Methods: Specialized biomedical databases were searched for studies published up to March 2020. Descriptors and Boolean operators were used. Advanced search strategy was used for the selection of articles, taking into account the methodological quality and validity of the studies. Results: Strong evidence of the association between folate metabolism and neurodegenerative disorders were identified. Enzyme-coding genes involved in folate metabolism and epigenetic DNA modifications associated with increased risk or disease severity in Alzheimer´s, Parkinson´s, and Huntington´s diseases, Essential Tremor, and Spinocerebellar ataxia type 2 were also identified. Associations between neurodegenerative disorders and altered levels of folate metabolites and the frequency of micronuclei were found. A number of observational and experimental studies have demonstrated that the supplementation with folic acid and vitamin B6 and B12 has therapeutic potential in the context of neurodegenerative disorders. Conclusions: Folate metabolism is of physiopathological, clinical and therapeutic relevance for neurodegenerative disorders. The use of strategies to normalize folate levels or enzyme cofactors involved in folate metabolism or to reduce homocysteine levels has potential therapeutic applications for these disorders(AU)

One­carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.

BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder due to a CAG-repeat expansion. This work is intended to identify modifiers of the clinical phenotype in SCA2, following up on recent genome-wide association analyses that demonstrated the prominent role of DNA-damage repair and methylation for the severity and progression of polyglutamine diseases. In particular, we assessed the impact of MTHFR as rate-limiting enzyme in DNA methylation pathways, which modulates cerebellar neurotransmission and motor neuron atrophy. METHODS: A sample of 166 Cuban SCA2 patients and of 130 healthy subjects from the same geographical and ethnic background was selected. The ATXN2 CAG repeat length was determined by PCR followed by polyacrylamide gel electrophoresis. Two amino acid substitutions known to decrease the enzyme activity of MTHFR, encoded by C677T and A1298C polymorphisms, were assessed by PCR/RFLP. RESULTS: No significant differences were observed for C677T or A1298C alleles or genotype frequencies between cases and controls, confirming that disease risk in SCA2 does not depend on MTHFR activity. However, MTHFR A1298C genotypes showed a significant association with saccade latency. CONCLUSIONS: \MTHFR A1298C polymorphism is associated with saccade latency in SCA2 patients, but not with disease risk, age at onset or maximal saccade velocity. These results provide evidence that folate-mediated one­carbon metabolism might be important in the physiopathology of SCA2.