Background Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare and heterogeneous genetic disorders, in which early diagnosis can be challenging. Cases Retrospective review of clinical, neurophysiological, radiological, and molecular data from 18 […]
Introduction Narcolepsy is a chronic neurological disorder characterized by excessive daytime sleepiness and abnormal rapid eye movement manifestations, such as cataplexy, sleep paralysis, and hypnagogic hallucinations. Symptoms usually begin in childhood or adolescence, and diagnosis […]
La enfermedad de Pompe o glucogenosis tipo II es una enfermedad poco frecuente causada por mutaciones en el gen GAA que conduce a la deficiencia de la enzima alfa-1,4-glucosidasa ácida. Como resultado del defecto enzimático […]
Objective This study aimed to investigate the interrelationship between sleep disturbances, heart rate variability (HRV), and the risk of sudden unexpected death in epilepsy (SUDEP), with a focus on identifying novel risk factors related to […]
Introduction Dementias currently impose a significant burden in terms of morbidity, mortality, socio-economic costs, and human suffering. Several studies have indicated that certain infectious diseases may increase the risk of dementia. Additionally, research has suggested […]
Introducción Con el propósito de rediseñar el rol de promover y fomentar el progreso de la neurología y anticiparnos al contexto social, científico, sanitario y económico que nos brinda esta etapa de gran desarrollo de […]
Introducción Las enfermedades de motoneurona (EMN) incluyen afecciones como la esclerosis lateral amiotrófica (ELA) y la esclerosis lateral primaria (ELP), caracterizadas por la degeneración progresiva de la primera y/o segunda motoneurona. La identificación de biomarcadores […]