ALS and other neuromuscular disorders

Introduction

ELA y otros trastornos neuromusculares

Neuromuscular diseases (NMDs) form a heterogeneous group of pathologies affecting the spinal cord and its tracts, nerve roots as well as motor and sensory peripheral nerves and roots, the neuromuscular junction and muscles. Diagnosis involves the use of a series of sophisticated methods that include: neurophysiological studies, muscle or nerve biopsy with the use of immunohistochemical techniques and others, metabolic analysis and tests, MRI studies, quantification of muscle deficit and in many cases genetic studies.

From the few epidemiological studies that exist in our country, the prevalence of chronic neurodegenerative and/or hereditary pathology is estimated to be of around 60,000 patients throughout Spain.

Lines of Research

  • Clinical characterization of neuromuscular pathologies and correlation between their clinical phenotype and genotype (or proteomic characterization).
  • Development of animal models based on genotypically identified dystrophies.
  • Study of the pathophysiology of neuromuscular diseases.
  • Development of new therapeutic strategies.

Research Groups

Jefe de GrupoInstitución consorciadaDetalles

Acevedo Arozena, Abraham

Hospital Universitario de Canarias de Sta. Cruz de Tenerife View group

Fernández Chacón, Rafael

Universidad de Sevilla View group

Infante Cebeiro, Jon

Instituto de Investigación Marqués de Valdecilla, Santander View group

López de Munain Arregui, Adolfo

Instituto de Investigación Biodonostia, San Sebastián View group

Martínez Gil, Ana

Centro de Investigaciones Biológicas, CSIC de Madrid View group

Muñoz Cánoves, Pura

Universidad Pompeu Fabra ICREA, Barcelona View group

Navarro Acebes, Xavier

Universidad Autónoma de Barcelona View group

Osta Pinzolas, Rosario

Fundacion Instituto de Investigación Sanitaria Aragón de Zaragoza View group

Paradas López, Carmen

Instituto de Biomedicina de Sevilla (IBIS) de Sevilla View group

Program 3 is coordinated by Drs. Rafael Fernández Chacón (University of Seville) and Carmen Paradas (Seville Institute of Biomedicine (IBIS).