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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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Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Margarita Gratacós Viñola

Margarita Gratacós Viñola

Peripheral Nervous System
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Arnau Llauradó Gayete

Arnau Llauradó Gayete

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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Jose Alemañ Diez

Jose Alemañ Diez

Predoctoral researcher
Peripheral Nervous System
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Margarita Gratacós Viñola

Margarita Gratacós Viñola

Peripheral Nervous System
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Arnau Llauradó Gayete

Arnau Llauradó Gayete

Predoctoral researcher
Peripheral Nervous System
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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

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

IP: Raul Juntas Morales
Collaborators: -
Funding agency: Fundación Francisco Luzón
Funding: 139000
Reference: FCO.LUZON/PROJECTES/2024/JUNTAS
Duration: 01/11/2024 - 31/10/2027

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

GRE: Sistema Nerviòs Perifèric

IP: Raul Juntas Morales
Collaborators: Anna Belen Canovas Segura, Maria Salvadó Figueras, Consuelo Garcia Carmona, José Manuel Vidal Taboada, Javier Joaquín Sotoca Fernández, Arnau Llauradó Gayete, Daniel Sánchez-Tejerin San José
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01121
Duration: 01/01/2022 - 30/06/2025

Biomarcadors clínics, moleculars i neurofisiològics per al diagnòstic, seguiment i teràpia personalitzada en la polineuropatia desmielinitzant inflamatòria crònica

IP: José Manuel Vidal Taboada
Collaborators: Arnau Llauradó Gayete, Miriam Izquierdo Sans
Funding agency: Fundació Institut de Recerca HUVH
Funding: 117000
Reference: HUVH/BPFSE_G-D/2022/LLAURADÓ
Duration: 14/06/2022 - 13/06/2024

Publications

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

PMID: 36959467
Journal: JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al.
DOI: 10.1038/s10038-023-01144-2

Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia.

PMID: 36990717
Journal: NEUROLOGY
Year: 2023
Reference: Neurology. 2023 Aug 1;101(5):e570-e575. doi: 10.1212/WNL.0000000000207246. Epub 2023 Mar 29.
Impact factor:
Publication type: Letter or abstract
Authors: Auger, Cristina; Baucells, Andres; Gonzalez, Victoria; Llaurado, Arnau; Rodrigo-Gisbert, Marc et al.
DOI: 10.1212/WNL.0000000000207246

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.

PMID: 37448106
Journal: NEUROGASTROENTEROLOGY AND MOTILITY
Year: 2023
Reference: Neurogastroenterol Motil. 2023 Jul 13:e14643. doi: 10.1111/nmo.14643.
Impact factor:
Publication type: Paper in international publication
Authors: Accarino, Anna; Alcala-Gonzalez, Luis G; Azpiroz, Fernando; Llaurado, Arnau; Malagelada, Carolina; Ramon, Ramon; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/nmo.14643

Amyloid polyneuropathy in a patient with Waldenstrom macroglobulinemia.

PMID: 37661503
Journal: MEDICINA CLINICA
Year: 2023
Reference: Med Clin (Barc). 2023 Sep 1:S0025-7753(23)00392-5. doi: 10.1016/j.medcli.2023.05.024.
Impact factor:
Publication type: Paper in national publication
Authors: Aldecoa, Iban; Aranega, Raquel; Marco, Daniel N; Milisenda, Jose C; Sanchez-Tejerina, Daniel et al.
DOI: 10.1016/j.medcli.2023.05.024

Post-COVID-19 persistent headache: A multicentric 9-months follow-up study of 905 patients.

PMID: 35166156
Journal: CEPHALALGIA
Year: 2022
Reference: Cephalalgia. 2022 Jul;42(8):804-809. doi: 10.1177/03331024211068074. Epub 2022 Feb 15.
Impact factor: 6.295
Publication type: Paper in international publication
Authors: Pozo-Rosich, Patricia; de Lorenzo, Inigo; Garcia-Azorin, David; Layos-Romero, Almudena; Porta-Etessam, Jesus; Membrilla, Javier A; Caronna, Edoardo; Gonzalez-Martinez, Alicia; Mencia, Alvaro Sierra; Segura, Tomas et al.
DOI: 10.1177/03331024211068074

HLA-DQB1*05:02, *05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort.

PMID: 35524016
Journal: NEUROLOGICAL SCIENCES
Year: 2022
Reference: Neurol Sci. 2022 May 6. pii: 10.1007/s10072-022-06102-y. doi: 10.1007/s10072-022-06102-y.
Impact factor: 3.307
Publication type: Paper in international publication
Authors: Salvado, Maria, Caro, Jose Luis, Rudilla, Francesc, Zalba-Jadraque, Laura, Lopez, Eva, Sanjuan, Elia, Gamez, Josep, Vidal-Taboada, Jose Manuel, Garcia, Cecilia et al.
DOI: 10.1007/s10072-022-06102-y

[Prognostic and monitoring biomarkers in chronic inflammatory demyelinating polyneuropathy].

PMID: 35332927
Journal: REVISTA DE NEUROLOGIA
Year: 2022
Reference: Rev Neurol. 2022 Apr 1;74(7):232-241. doi: 10.33588/rn.7407.2021495.
Impact factor: 0.87
Publication type: Review in national publication
Authors: Llaurado, A, Sanchez-Tejerina, D, Vidal-Taboada, J M, Salvado, M, Sotoca, J, Juntas-Morales, R et al.
DOI: 10.33588/rn.7407.2021495

Altered expression of the immunoregulatory ligand-receptor pair CD200-CD200R1 in the brain of Parkinson's disease patients.

PMID: 35296683
Journal: npj Parkinsons Disease
Year: 2022
Reference: NPJ Parkinsons Dis. 2022 Mar 16;8(1):27. doi: 10.1038/s41531-022-00290-2.
Impact factor: 8.651
Publication type: Paper in international publication
Authors: Rabaneda-Lombarte, Neus, Vidal-Taboada, Jose Manuel, Valente, Tony, Ezquerra, Mario, Fernandez-Santiago, Ruben, Marti, Maria Jose, Compta, Yaroslau, Saura, Josep, Sola, Carme et al.
DOI: 10.1038/s41531-022-00290-2

[Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series].

PMID: 34170003
Journal: REVISTA DE NEUROLOGIA
Year: 2021
Reference: Rev Neurol. 2021 Jul 1;73(1):10-16. doi: 10.33588/rn.7301.2021042.
Impact factor: 0.87
Publication type: Paper in national publication
Authors: Ballve, A, Llaurado, A, Palasi, A, Quintana, M, Lainez, E, Raguer, N, Juntas-Morales, R, Martinez-Saez, E et al.
DOI: 10.33588/rn.7301.2021042

Implications of initiating antiseizure drugs prior to the performance of EEG in first epileptic seizures.

PMID: 33875301
Journal: NEUROLOGIA
Year: 2021
Reference: Neurologia (Engl Ed). 2021 Apr 16. pii: S0213-4853(21)00053-0. doi: 10.1016/j.nrl.2021.02.014.
Impact factor: 3.109
Publication type: Paper in national publication
Authors: Llaurado, A, Quintana, M, Fonseca, E, Abraira, L, Toledo, M, Requena, M, Olive, M, Ballve, A, Campos, D, Sueiras, M et al.
DOI: 10.1016/j.nrl.2021.02.014

Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France.

PMID: 33576710
Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Year: 2021
Reference: Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):505-507. doi: 10.1080/21678421.2021.1883669. Epub 2021 Feb 12.
Impact factor: 4.092
Publication type: Paper in international publication
Authors: Pageot, Nicolas, Juntas-Morales, Raul, Alphandery, Sebastien, Camu, William, De La Cruz, Elisa, Esselin, Florence et al.
DOI: 10.1080/21678421.2021.1883669

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

PMID: 31781168
Journal: Frontiers in Genetics
Year: 2019
Reference: Front Genet. 2019 Nov 8;10:1109. doi: 10.3389/fgene.2019.01109. eCollection 2019.
Impact factor: 3.517
Publication type: Paper in international publication
Authors: Gamez, Josep, Morales, Miguel, Salvado, Maria, Vidal-Taboada, Jose Manuel, Garcia, Cecilia, Syriani, Enrique et al.
DOI: 10.3389/fgene.2019.01109

Two novel ligand-independent variants of the VEGFR-1 receptor are expressed in human testis and spermatozoa, one of them with the ability to activate SRC proto-oncogene tyrosine kinases.

PMID: 31645906
Journal: Oncotarget
Year: 2019
Reference: Oncotarget. 2019 Oct 8;10(56):5871-5887. doi: 10.18632/oncotarget.27232. eCollection 2019 Oct 8.
Impact factor: 0
Publication type: Paper in international publication
Authors: Alvarez-Palomo, Belen, Barrot-Feixat, Carme, Sarret, Helena, Requena, Jordi, Pau, Montserrat, Vidal-Taboada, Jose-Manuel, Oliva, Rafael, Ballesca, Josep-Lluis, Edel, Michael J, Mezquita-Pla, Jovita et al.
DOI: 10.18632/oncotarget.27232

RNA-Seq transcriptomic profiling of primary murine microglia treated with LPS or LPS + IFNgamma.

PMID: 30382133
Journal: Scientific Reports
Year: 2018
Reference: Sci Rep. 2018 Oct 31;8(1):16096. doi: 10.1038/s41598-018-34412-9.
Impact factor: 4.122
Publication type: Paper in international publication
Authors: Pulido-Salgado, Marta, Vidal-Taboada, Jose M, Barriga, Gerardo Garcia-Diaz, Sola, Carme, Saura, Josep et al.
DOI: 10.1038/s41598-018-34412-9

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
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
University: Universidad Autònoma de Barcelona
Year: 2020