Neurosciences

Peripheral Nervous System

Josep Gámez

Researchers
Maria Dolors Pelegrí Santos

Researchers in training
Sonia Cazorla Cavaller, Cecília García Rodríguez, Laura Lorenzo Sanz, Maria Salvadó Figueras

Nursing, Technical, and Administrative Staff
M. Mercè Badia Cantó, Francisco Borràs Garrote

SUMMARY

In 2014, Dr. Gámez, as a member of ALSuntangled, has actively participated in the publication of scientific research data on MND off-label treatments (ursodiol, vitamine D, retroviruses). Dr. Salvadó was awarded with the Scientific Poster Prize at the International Symposium on MND/ALS for the results of a coordinated translational research between the Biochemistry and Molecular Biology Unit – Faculty of Medicine (IDIBAPS, UB) and our research group. This study showed that in our clinical series, functional variants of the CXCR3 gene, codifying for the microglial fractalkine receptor, acted as one of the most potents disease progression and survival modifiers in ALS.

Recently, Dr. Gámez presented the outcomes of the project entitled ‘Progressive degeneration of nigrostriatal pathway in Huntington disease. A [123I]-FP-CIT SPECT three-year follow-up study’ in the 19th International Congress of Parkinson’s Disease and Movement Disorders held in San Diego. This is the first study to investigate the [123I]-FP-CIT DaTSCAN SPECT as a disease biomarker due to its effectiveness in assessing presynaptic dopaminergic decline in Huntington’s disease patients. Relevance of this project is based on the fact that it provides an objective method for measuring the effectiveness of future neuroprotective therapies in HD.

PUBLICATIONS

Total 12.
Impact Factor 34.027
Average I.F. 2.836

  • Syriani E, Salvans C, Salvadó M, Morales M, Lorenzo L, Cazorla S, Gamez J. PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. J Neurol. 2014 Dec;261(12):2387-92. doi: 10.1007/s00415-014-7501-x. Epub 2014 Sep 24. IF: 3.841.
  • Lopez-Lopez A, Gamez J, Syriani E, Morales M, Salvado M, Rodríguez MJ, Mahy N, Vidal-Taboada JM. CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.
    PLoS One. 2014 May 7;9(5):e96528. doi: 10.1371/journal.pone.0096528. eCollection 2014. IF: 3.534.
  • Gamez J. Intravenous immunoglobulin for preparing myasthenia gravis patients for thymectomy and other surgical procedures preventing myasthenic crisis. Clin Exp Immunol. 2014 Dec;178 Suppl 1:134-5. doi: 10.1111/cei.12542. IF: 3.278.
  • Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15. IF: 3.134.
  • Gamez J. No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last. Neuropathology. 2014 Apr;34(2):217-8. doi: 10.1111/neup.12059. Epub 2013 Aug 27. IF: 1.796.

 

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MAIN RESEARCH PROJECTS

  • Investigación del rol de los polimorfismos HLA-DRB1/DQB1 como factores genéticos de susceptibilidad para las formas esporádicas y familiares de la miastenia gravis autoinmune en una población española. Fondo de Investigación Sanitaria (PI13/01272). 75.927,50 €. From 2014 to 2016.
  • ALDPIO: Desarrollo de nuevas terapias para el tratamiento de la Adrenoleucodistrofia ligada al cromosoma X. Ministerio de Economía y Competitividad. RTC-2014-1521-1. 142.805,00 €.
  • Proyecto DESATA: DESArrollo de un medicamento para el Tratamiento de la Amiloidosis por transtiretina. Ministerio de Economía y Competitividad. RTC-2014-1931-1. 92.563,00 €. From 2014 to 2017.
  • Intravenous immunoglobulin for preparing myasthenia gravis patients for thymectomy and other surgical procedures preventing myasthenic crisis.(ITL) Codi Protocol: MG2012PREP. ITL_CSL-ILA2011. 176.819,76 €. From 2012 to 2015.

 

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PATENTS

Genetic variant in the CX3CR1 gene as prognosis marker for amyotrophic lateral sclerosis (ALS). Inventors: VIDAL TABOADA José Manuel, LÓPEZ LÓPEZ Alan, GÁMEZ CARBONELL Josep, SYRIANI CASAGRANDE Enrique Emilio, MORALES FUCIÑOS Miguel, RODRÍGUEZ ALLUÉ Manuel José, MAHY GEHENNE Nicole. HELD by: UB, Fund. Hospital Univ. Vall d’Hebron, Fund. Rioja Salud and IDIBAPS. APPLICATION No.: EP 1338220.