[Neuropsychological profile in patients with myotonic dystrophy type 1: a four-year follow-up study]. / Perfil neuropsicológico en pacientes con distrofia miotónica tipo 1: estudio de seguimiento a cuatro años.

INTRODUCTION: Myotonic dystrophy type 1 (MD1), or Steinert's disease, is a multisystemic disorder of autosomal dominant inheritance, whose adult variant usually presents with multidomain cognitive impairment and affects patients' functionality and quality of life. AIM: To study the four-year history of cognitive functioning in a sample of patients with the adult variant of MD1. PATIENTS AND METHODS: The neurocognitive functions of a sample of 31 patients with MD1 are evaluated, of whom 24 repeat the test administered four years ago in the Neurology Service of the Complejo Hospitalario of Navarra. Data are collected from the cognitive domains that are most related to the deficits that usually present in MD1. RESULTS: The follow-up evaluation found that the visuospatial and visuoconstructive functions and alternating attention of the patients who underwent the study were affected, as was their daily functioning reported by the family. These results are in line with those obtained four years earlier, with no significant deterioration observed between the two measurements. A higher incidence of cognitive impairment was also displayed in 2018, with some cases of progression to dementia in Steinert's disease. CONCLUSION: Neurocognitive progression in MD1 seems to respond to a progressive pattern of degeneration, linked to the functions that are most affected from the beginning of the sequelae phase and which usually correspond to the domains of working memory, alternating attention, and visuospatial and visuoconstructive abilities.

TITLE: Perfil neuropsicológico en pacientes con distrofia miotónica tipo 1: estudio de seguimiento a cuatro años.Introducción. La distrofia miotónica tipo 1 (DM1), o enfermedad de Steinert, es un trastorno multisistémico de herencia autosómica dominante, cuya variante adulta suele cursar con deterioro cognitivo multidominio y afectación de la funcionalidad y la calidad de vida de los pacientes. Objetivo. Estudiar la evolución a cuatro años del funcionamiento cognitivo de una muestra de pacientes con la variante adulta de DM1. Pacientes y métodos. Se evalúan las funciones cognitivas de una muestra de 31 pacientes con DM1, de los cuales 24 repiten la evaluación administrada hace cuatro años en el Servicio de Neurología del Complejo Hospitalario de Navarra. Se recogen datos de los dominios neurocognitivos más relacionados con los déficits de presentación habitual en la DM1. Resultados. La evaluación de seguimiento constató la afectación de las funciones visuoespaciales y visuoconstructivas y de la atención alternante de los pacientes que se sometieron al estudio, así como de su funcionamiento cotidiano informado por la familia. Estos resultados están en línea con los obtenidos cuatro años atrás, sin que se haya objetivado un deterioro significativo entre ambas mediciones. Se demuestra, además, una mayor incidencia de deterioro cognitivo en 2018, con algunos casos de evolución a demencia en la enfermedad de Steinert. Conclusión. La evolución neuropsicológica en la DM1 parece responder a un patrón progresivo, ligado a las funciones que más se afectan desde los inicios de la fase de secuelas y que suelen corresponder a los dominios de memoria de trabajo, atención alternante y habilidades visuoespaciales y visuoconstructivas.

Seudotumor cerebri en niños: etiología, características clínicas y evolución / Pseudotumour cerebri in children: Aetiology, clinical features, and progression

Introducción: El síndrome de hipertensión intracraneal idiopática o seudotumor cerebri (STC) en niños está en constante revisión, respecto a su definición, etiologías asociadas, diagnóstico y terapéutica más apropiada. Objetivos y métodos: Se revisaron los casos de STC < 15 años de edad en un hospital de referencia en los últimos 12 años. Se estudiaron las características clínico-epidemiológicas y el procedimiento diagnóstico-terapéutico empleado. Se definió STC como presión intracraneal > 25cmH2O por punción lumbar (PL), con estudio de resonancia magnética cerebral sin lesión ocupante de espacio. Resultados: Se registró a 12 niños con STC, media de edad de 10 años, 90% mujeres. Todos presentaban peso normal. El 82% manifestaba síntomas: cefalea (66%), diplopía (8%) o baja visión (8%). Todos asociaban papiledema (17% unilateral). La PL fue diagnóstica en el 100% y la neuroimagen fue normal en el 91%. Se evidenció un posible desencadenante en 5 casos (2 farmacológico y 3 infeccioso por Mycoplasma pneumoniae [M. pneumoniae]). El 91% recibió tratamiento médico: en el 75% consistió en PL repetidas y en el 42% solo acetazolamida y/o prednisona. La evolución fue favorable en todos ellos. Conclusiones: La incidencia de STC fue de aproximadamente 1/100.000 niños/año, similar a estudios previos. En esta población, el sobrepeso no es un factor de riesgo. La infección por M. pneumoniae podría actuar como desencadenante de STC y favorecer recurrencias tardías. La ausencia de síntomas parece independiente del grado de presión intracraneal. El tratamiento con acetazolamida es eficaz en la mayoría de los casos, desterrando el uso de PL repetidas

Introduction: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. Objectives and methods: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches. PTC was defined as presence of intracranial hypertension (CSF opening pressure> 25 cmH2O) and absence of space-occupying lesions in brain MR images. Results: A total of 12 children with PTC were included; mean age was 10 years and 90% were girls. Weight was normal in all patients. Eighty-two percent of the patients had symptoms: headache (66%), diplopia (8%), and visual loss (8%). All of them displayed papilloedema (17% unilaterally). Lumbar puncture (LP) provided the diagnosis in all cases and 91% showed no relevant MRI findings. A potential cause of PTC was identified in 5 cases: pharmacological treatment in 2 and infection (Mycoplasma pneumoniae [M. pneumoniae]) in 3. Ninety-one per cent of the patients received treatment: 75% underwent several LPs and 42% received acetazolamide and/or prednisone. Outcomes were favourable in all cases. Conclusions: The incidence of PTC was estimated at approximately 1 case per 100 000 children/years, in line with data reported by previous studies. Overweight was not found to be a risk factor for PTC in this population. M. pneumoniae infection may trigger PTC and cause recurrences at later stages. The absence of symptoms seems to be independent from the degree of intracranial hypertension. Acetazolamide treatment is effective in most cases, and it represents a viable alternative to repeated LP

Pseudotumour cerebri in children: Aetiology, clinical features, and progression. / Seudotumor cerebri en niños: etiología, características clínicas y evolución.

INTRODUCTION: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population. OBJECTIVES AND METHODS: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches. PTC was defined as presence of intracranial hypertension (CSF opening pressure>25cmH2O) and absence of space-occupying lesions in brain MR images. RESULTS: A total of 12 children with PTC were included; mean age was 10 years and 90% were girls. Weight was normal in all patients. Eighty-two percent of the patients had symptoms: headache (66%), diplopia (8%), and visual loss (8%). All of them displayed papilloedema (17% unilaterally). Lumbar puncture (LP) provided the diagnosis in all cases and 91% showed no relevant MRI findings. A potential cause of PTC was identified in 5 cases: pharmacological treatment in 2 and infection (Mycoplasma pneumoniae [M. pneumoniae]) in 3. Ninety-one per cent of the patients received treatment: 75% underwent several LPs and 42% received acetazolamide and/or prednisone. Outcomes were favourable in all cases. CONCLUSIONS: The incidence of PTC was estimated at approximately 1 case per 100 000 children/years, in line with data reported by previous studies. Overweight was not found to be a risk factor for PTC in this population. M. pneumoniae infection may trigger PTC and cause recurrences at later stages. The absence of symptoms seems to be independent from the degree of intracranial hypertension. Acetazolamide treatment is effective in most cases, and it represents a viable alternative to repeated LP.

Modificaciones epigenéticas en neurología: alteraciones en la metilación del ADN en la esclerosis múltiple / Epigenetic changes in neurology: DNA methylation in multiple sclerosis

Introducción: La epigenética se define como el estudio de los mecanismos que regulan la expresión génica sin modificar la secuencia de ADN, siendo entre ellos el más conocido la metilación del ADN. La esclerosis múltiple (EM) es una enfermedad de etiología no del todo conocida, en la que se plantea que la participación de factores ambientales sobre individuos con una determinada predisposición genética, pueden resultar claves para el desarrollo de la enfermedad. Es en esta intersección entre la predisposición genética y los factores ambientales donde la metilación del ADN puede desempeñar un papel patogénico. Desarrollo: Realizamos una revisión bibliográfica de los efectos que los factores de riesgo ambiental para el desarrollo de EM pueden ejercer sobre los distintos mecanismos epigenéticos, así como la implicación que presentan dichas modificaciones en el desarrollo de la enfermedad. Conclusión: El conocimiento de las modificaciones epigenéticas involucradas en la patogenia de la EM abre una nueva vía de investigación para la identificación de potenciales biomarcadores, así como para la búsqueda de nuevas dianas terapéuticas (AU)

Introduction: Epigenetics is defined as the study of the mechanisms that regulate gene expression without altering the underlying DNA sequence. The best known is DNA methylation. Multiple Sclerosis (MS) is a disease with no entirely known etiology, in which it is stated that the involvement of environmental factors on people with a genetic predisposition, may be key to the development of the disease. It is at this intersection between genetic predisposition and environmental factors where DNA methylation may play a pathogenic role. Development: A literature review of the effects of environmental risk factors for the development of MS can have on the different epigenetic mechanisms as well as the implication that such changes have on the development of the disease. Conclusion: Knowledge of epigenetic modifications involved in the pathogenesis of MS, opens a new avenue of research for identification of potential biomarkers, as well as finding new therapeutic targets (AU)

Epigenetic changes in neurology: DNA methylation in multiple sclerosis. / Modificaciones epigenéticas en neurología: alteraciones en la metilación del ADN en la esclerosis múltiple.

INTRODUCTION: Epigenetics is defined as the study of the mechanisms that regulate gene expression without altering the underlying DNA sequence. The best known is DNA methylation. Multiple Sclerosis (MS) is a disease with no entirely known etiology, in which it is stated that the involvement of environmental factors on people with a genetic predisposition, may be key to the development of the disease. It is at this intersection between genetic predisposition and environmental factors where DNA methylation may play a pathogenic role. DEVELOPMENT: A literature review of the effects of environmental risk factors for the development of MS can have on the different epigenetic mechanisms as well as the implication that such changes have on the development of the disease. CONCLUSION: Knowledge of epigenetic modifications involved in the pathogenesis of MS, opens a new avenue of research for identification of potential biomarkers, as well as finding new therapeutic targets.