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DrPorta.com

Dr, Jesús Porta-Etessam

Servicio de Neurología
Universidad Complutense
Hospital Clínico San Carlos de 
Madrid

Instituto de Neurociencias Aplicadas

C/ La granja, 8. Madrid

Consulta 5.5

Citaciones: 91 299 12 99

Redes sociales :

Noticias destacadas

Neurología

Resultados del tratamiento quirúrgico en la miastenia gravis juvenil
F.J. Vázquez-Roque, M.O. Hernández-Oliver, Y. Medrano Plana, A. Castillo Vitlloch, L. Fuentes Herrera, D. Rivero-Valerón Neurologia 2017;32:137-42 Resumen - Texto completo - PDF


Calidad de vida relacionada con la salud en pacientes con ataxias espinocerebelosas
C.R. Sánchez-López, L. Perestelo-Pérez, A. Escobar, J. López-Bastida, P. Serrano-Aguilar Neurologia 2017;32:143-51 Resumen - Texto completo - PDF


Cardiorespiratory fitness alters the influence of a polygenic risk score on biomarkers of AD
Objective: To examine whether a polygenic risk score (PRS) derived from APOE4, CLU, and ABCA7 is associated with CSF biomarkers of Alzheimer disease (AD) pathology and whether higher cardiorespiratory fitness (CRF) modifies the association between the PRS and CSF biomarkers. Methods: Ninety-five individuals from the Wisconsin Registry for Alzheimer's Prevention were included in these cross-sectional analyses. They were genotyped for APOE4, CLU, and ABCA7, from which a PRS was calculated for each participant. The participants underwent lumbar puncture for CSF collection. β-Amyloid 42 (Aβ42), Aβ40, total tau (t-tau), and phosphorylated tau (p-tau) were quantified by immunoassays, and Aβ42/Aβ40 and tau/Aβ42 ratios were computed. CRF was estimated from a validated equation incorporating sex, age, body mass index, resting heart rate, and self-reported physical activity. Covariate-adjusted regression analyses were used to test for associations between the PRS and CSF biomarkers. In addition, by including a PRSxCRF term in the models, we examined whether these associations were modified by CRF. Results: A higher PRS was associated with lower Aβ42/Aβ40 (p < 0.001), higher t-tau/Aβ42 (p = 0.012), and higher p-tau/Aβ42 (p = 0.040). Furthermore, we observed PRS x CRF interactions for Aβ42/Aβ40 (p = 0.003), t-tau/Aβ42 (p = 0.003), and p-tau/Aβ42 (p = 0.001). Specifically, the association between the PRS and these CSF biomarkers was diminished in those with higher CRF. Conclusions: In a late-middle-aged cohort, CRF attenuates the adverse influence of genetic vulnerability on CSF biomarkers. These findings support the notion that increased cardiorespiratory fitness may be beneficial to those at increased genetic risk for AD.
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Paroxysmal eye-head movements in Glut1 deficiency syndrome
Objective: To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Conclusions: Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder.
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Dr Jesús Porta-Etessam. Madrid