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Peripheral Nervous System

Our laboratory, in the Neuromuscular Disorders Unit of the Neurology Service, has a twenty-year history of clinical care and research into amyotrophic lateral sclerosis (ALS) and other motor neurone diseases (hereditary, spastic paraplegia, post-polio syndrome, Hirayama disease, spinal muscular atrophy), myasthenia gravis, genetically determined myopathies, and peripheral neuropathies. Our main lines of research focus on the molecular mechanisms of amyotrophic lateral sclerosis and how genetic mutations in family ELA predispose or modify genetic factors. We also look for effective biomarkers in blood and in cerebrospinal fluid that allow the evaluation of new medication.

Team

Maria Salvadó Figueras

Maria Salvadó Figueras

Postdoctoral researcher
Peripheral Nervous System
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Anna Belen Canovas Segura

Anna Belen Canovas Segura

Research technician
Peripheral Nervous System
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Consuelo Garcia Carmona

Consuelo Garcia Carmona

Research technician
Peripheral Nervous System
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Daniel Sánchez-Tejerin San José

Daniel Sánchez-Tejerin San José

Predoctoral researcher
Peripheral Nervous System
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Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Lidia Giramé Rizzo

Lidia Giramé Rizzo

Predoctoral researcher
Peripheral Nervous System
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Maria Salvadó Figueras

Maria Salvadó Figueras

Postdoctoral researcher
Peripheral Nervous System
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Anna Belen Canovas Segura

Anna Belen Canovas Segura

Research technician
Peripheral Nervous System
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Consuelo Garcia Carmona

Consuelo Garcia Carmona

Research technician
Peripheral Nervous System
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Daniel Sánchez-Tejerin San José

Daniel Sánchez-Tejerin San José

Predoctoral researcher
Peripheral Nervous System
Read more
Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Lidia Giramé Rizzo

Lidia Giramé Rizzo

Predoctoral researcher
Peripheral Nervous System
Read more

Research lines

Genetic Mutations in Familial ALS

In our main research line, clinical/genetic characterization of familial forms of ALS, a Spanish/Italian collaboration evaluated a possible phenotype/genotype correlation and sought a founder effect in four Mediterranean families (3 Spanish and 1 Italian) carrying the p.I112M SOD1 mutation. This interesting study was motivated by the shared historical links between Catalonia and Sicily (Amyotroph Lateral Scler 2011;12:70-75).

IP: Josep Gamez Carbonell

Molecular Mechanisms of ALS

In 2011, our group investigated the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort previously studied for SOD1 in 2006. We identified the first two FUS/TLS families in Spain. One of the main conclusions is that FUS/TLS mutations are the second most common cause of FALS in our population (Amyotroph Lateral Scler 2011;12:118-123).

IP: Josep Gamez Carbonell

Network of clinical experts in ALS (ALSUntangled)

Our group joined ALSUntangled, a network of clinical experts in ALS providing an informed opinion about alternative and off-label treatments, about which they are frequently asked by patients attending their clinics. The goals for each investigation are to clarify what is on offer, its cost, the scientific and ethical basis of the ‘‘treatment’’, and the potential benefits and risks. In consequence, we published the following reports: Amyotroph Lateral Scler 2011;12:471-2, Amyotroph Lateral Scler 2011;12:389-91, Amyotroph Lateral Scler 2011;12:309-11, Amyotroph Lateral Scler 2011;12:235-7, Amyotroph Lateral Scler 2011;12:153-5.

IP: Josep Gamez Carbonell

Projects

RED ESPAÑOLA DE NEUROPATÍAS AUTOINMUNES - Spanish Partnership for Autoimmune Neuropathies (SPAiN)

IP: Arnau Llauradó Gayete
Collaborators: Josep Quer Sivila, Laura Costa Comellas
Funding agency: Instituto de Salud Carlos III
Funding: 480370
Reference: PMPER24/00018
Duration: 01/01/2025 - 31/12/2026

Developing a Comprehensive Biomarker Panel for Monitoring Progression and Early Detection in ALS Patients

IP: Raul Juntas Morales
Collaborators: Margarita Gratacós Viñola, Maria Salvadó Figueras, Nuria Raguer Sanz, David Ovelleiro Fraile, Consuelo Garcia Carmona, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Fundación Francisco Luzón
Funding: 139000
Reference: FCO.LUZON/PROJECTES/2024/JUNTAS
Duration: 12/12/2024 - 11/12/2027

Desarrollo e implementación de un nuevo panel de biomarcadores clínicos y moleculares para pronosticar la progresión y la supervivencia en pacientes con ELA

IP: Raul Juntas Morales
Collaborators: Margarita Gratacós Viñola, Maria Salvadó Figueras, Nuria Raguer Sanz, David Ovelleiro Fraile, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Instituto de Salud Carlos III
Funding: 190000
Reference: PI23/00850
Duration: 01/01/2024 - 31/12/2026

Thesis

Genetic risk factors in patients with Myasthenia Gravis and associated Parkinson's Disease

PhD student: Laura Zalba Jadraque
Director/s: José Manuel Vidal Taboada, Raul Juntas Morales, José Manuel Vidal Taboada
University: Universitat Autònoma de Barcelona
Year: 2023

Estudio de los factores genéticos que influyen en las formas familiares y esporádicas de miastenia gravis autoinmune

PhD student: Maria Salvadó Figueras
Director/s: Josep Gamez Carbonell, José Manuel Vidal Taboada, José Manuel Vidal Taboada
University: Universidad Autònoma de Barcelona
Year: 2020

Blog

News

The donation raised through ALS, the Musical will support the development of new biomarkers and more personalised research into the disease