Publications by authors named "J C Pardo-Fernandez"

Introduction: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.

Material And Methods: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.

View Article and Find Full Text PDF

Myasthenia gravis is an autoimmune disease caused by the presence of specific antibodies targeting different postsynaptic components of the neuromuscular junction, and is clinically characterized by the presence of fatigueable muscle weakness. In the etiopathogenesis plays a central role the thymus and the most frequently detected pathogenic autoantibodies are targeted to the acetylcholine receptor. The increase in the knowledge of the immunological components of the neuromuscular junction in the last two decades has been fundamental to identify new pathogenic antibodies, reduce the percentage of patients with seronegative myasthenia, and propose a classification of patients into subgroups with clinical-therapeutic interest.

View Article and Find Full Text PDF
Article Synopsis
  • The study focused on the prevalence of ataxia and hereditary spastic paraplegia in Spain, involving 1933 patients from various regions between 2018 and 2019.
  • Results showed that ataxia was more prevalent (70.9%) compared to hereditary spastic paraplegia (29.1%), with overall prevalence rates of 5.48 and 2.24 cases per 100,000 population, respectively.
  • A significant portion of patients (47.6%) lacked a genetic diagnosis, highlighting the need for improved healthcare resources and awareness for these rare disorders.
View Article and Find Full Text PDF

Introduction: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America.

View Article and Find Full Text PDF

The comparison of Receiver Operating Characteristic (ROC) curves is frequently used in the literature to compare the discriminatory capability of different classification procedures based on diagnostic variables. The performance of these variables can be sometimes influenced by the presence of other covariates, and thus they should be taken into account when making the comparison. A new non-parametric test is proposed here for testing the equality of two or more dependent ROC curves conditioned to the value of a multidimensional covariate.

View Article and Find Full Text PDF