[Review of the model of vertical gaze control]. / Revisión del modelo del control de la mirada vertical.

INTRODUCTION: The main structures involved in the control of vertical gaze, both saccades, smooth pursuit and oculovestibular reflexes, are the rostral interstitial nucleus of medial longitudinal fasciculus, posterior commissure, interstitial nucleus of Cajal, oculomotor complex and trochlear nerve nucleus. Despite knowing the functions of these nuclei, and their main interconnections, afferents and efferents, there is no definitive and contrasted model of vertical gaze control in humans. AIM: Through the description of three cases, and as described in scientific literature, our aim is to review the models described to date. DEVELOPMENT: The control of vertical saccades generates in the rostral interstitial nucleus of medial longitudinal fasciculus, projecting to the pertinent oculomotor nuclei ipsilaterally for the inferior gaze, and bilaterally for the superior gaze. CONCLUSIONS: The double cross-innervation of the nuclei responsible for superior gaze, implies that unilateral lesions predominantly affect the inferior gaze.

HLA-DRB1 en pacientes caucásicos con neuromielitis óptica / HLA-DRB1 typing in Caucasians patients with neuromyelitis optica

Introducción. Los anticuerpos contra la aquaporina-4 (Ac-AQP-4) permitieron identificar como enfermedades diferentes a la neuromielitis óptica (NMO) y la esclerosis múltiple (EM). Estudios recientes sugieren que los alelos HLA-DRB1 contribuyen de forma diferente en la NMO y la EM en poblaciones no caucásicas. Nuestro objetivo fue analizar la distribución HLA-DRB1 en pacientes con NMO de origen caucásico. Sujetos y métodos. Se incluyó una cohorte de 22 pacientes con NMO (el 73% con Ac-AQP-4), 228 con EM y 225 controles sanos de origen español, y se genotipificó el locus HLA-DRB1. Posteriormente, los resultados se combinaron con los descritos en una población caucásica francesa: 45 pacientes con NMO (el 53% con Ac-AQP-4), 156 con EM y 310 controles sanos. Resultados. En la cohorte española, la NMO, en comparación con la EM, se asociaba a una mayor frecuencia del alelo DRB1*10 (odds ratio, OR = 15,1; intervalo de confianza del 95%, IC 95% = 3,26-69,84; p = 0,012). En el análisis combinado, y comparado con controles sanos, la NMO se asociaba a una mayor frecuencia del alelo DRB1*03 (OR = 2,27; IC 95% = 1,44-3,58; p < 0,0008), y esto se relacionaba con tener Ac-AQP-4 (OR = 2,74; IC 95% = 1,58-4,77; p < 0,0008). Por el contrario, la EM se asociaba a una mayor frecuencia del alelo DRB1*15 (OR = 2,09; IC 95% = 1,62-2,68; p < 0,0008) y a una menor frecuencia del alelo DRB1*07 (OR = 0,58; IC 95% = 0,44-0,78; p < 0,0008). Conclusiones. Los pacientes caucásicos con NMO y EM presentan una distribución alélica HLA-DRB1 diferente. El alelo DRB1*03 parece contribuir a ser IgG-NMO seropositivo. Son necesarios estudios multicéntricos colaborativos para conocer mejor la contribución genética en la susceptibilidad a padecer NMO (AU)

Introduction. The existence of antibodies to aquaporin-4 (AQP-4-ab) has identified neuromyelitis optica (NMO) and multiple sclerosis (MS) as different diseases. Although HLA-DRB1 alleles contribute to MS risk, recent studies suggest that HLA background differs between patients with NMO or MS in non-Caucasians populations. Our study was aimed to analyze HLA-DRB1 distribution in Caucasians NMO patients. Subjects and methods. We recruited a cohort of 22 NMO patients (73% were AQP-4-ab positive), 228 MS patients and 225 healthy controls from Spain and we genotyped the HLA-DRB1 locus. Then, we performed a pool analysis using reported data from 45 NMO patients (53% were AQP-4-ab positive), 156 MS patients and 310 healthy controls from Caucasian French population. Results. In the Spanish cohort, NMO was associated with increased frequency of DRB1*10 allele compared with MS (odds ratio, OR = 15.1; 95% confidence interval, 95% CI = 3.26-69.84; p = 0.012). In the pooled analysis, by comparison with healthy controls, NMO was associated with increased frequency of DRB1*03 allele (OR = 2.27; 95% CI = 1.44-3.58; p < 0.0008) which was related to AQP-4-ab seropositivity (OR = 2.74; 95% CI = 1.58-4.77; p < 0.0008). By contrast, MS as associated with increased frequency of DRB1*15 allele (OR = 2.09; 95% CI = 1.62-2.68; p < 0.0008) and decreased frequency of DRB1*07 allele (OR = 0.58; 95% CI = 0.44-0.78; p < 0.0008). Conclusions. Caucasian patients with NMO and MS have a different HLA-DRB1 allelic distribution. DRB1*03 allele seems to contribute to NMO seropositivity. Multicenter collaborative efforts are needed to adequately address the genetic contribution to NMO susceptibility (AU)