Introducción Las mielopatías de origen desconocido (MOD) constituyen un grupo de patologías de difícil manejo, dada la ausencia de hallazgos en las pruebas de imagen no invasivas que justifiquen la clínica. La utilidad de la […]
Introduction Multiple sclerosis (MS) is an inflammatory, degenerative disease of the central nervous system with a complex and uncertain etiology. Although therapeutic advances have improved disease control, both prognosis and treatment monitoring continue to be […]
Introduction Blind EEG analysis, especially in the case of suspected nonconvulsive status epilepticus (NCSE), can lead to misdiagnosis. It is important to consider patient demographic and clinical information when interpreting EEG recordings, which constitutes a […]
Introduction Focal cortical dysplasia (FCD) type II, or Taylor-type FCD, is considered a common cause of drug-resistant epilepsy, with specific characteristics. In many cases, these patients respond well to surgery. Patients and methods The study […]
Introduction Previous research suggests that amantadine could be effective as an antiepileptic drug. We evaluate the use of the drug in children with refractory generalised epilepsy. Method Retrospective study of children with developmental and/or epileptic […]
Introduction X-linked myotubular myopathy (XLMTM) is a severe, rare, familial neuromuscular disease caused by mutations in the MTM1 gene. XLMTM presents a wide spectrum of clinical manifestations, including neuromuscular symptoms such as hypotonia and severe […]
Background Ataxia with downbeat nystagmus (A-DBN) has recently been associated with an intronic GAA repeat expansion in the FGF14 gene. The objectives of our study were to describe the clinical, radiological, and genetic findings, as […]
Background Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) has traditionally been considered a purely cardiological condition. However, recent studies suggest that neurological involvement in ATTRwt amyloidosis is more significant than previously believed. We conducted a comprehensive neurological […]
