Neurodegenerative diseases Research groups

- Study of the autonomic nervous system in synucleinopathies: since our group described for the first time in the literature the E46K mutation of the alpha-synuclein gene (SNCA), we have focused much of our research activity on the characterization of autonomic nervous system (ANS) in carriers of mutations such as E46K-SNCA, PARK2, LRRK2 and PINK1, as they are an excellent model for understanding and identifying biomarkers in the common idiopathic forms of synucleinopathies. Several projects have been financed by studying the ANS. In the triennium 2008-2011 we were awarded a FIS from ISCIII, one from Health Department of the Basque Government and several SAIOTEK (industry department of the Basque Government). These projects, besides allowing us to deepen the study of the ANS in these patients, allowed us to equip ourselves with the latest generation devices in the study of dysautonomia. In 2012 another SAIOTEK allowed us to study cardiac denervation in a specific way.

- Study of diagnostic, prognostic and response biomarkers of neuroprotective therapy in genetic parkinsonism and idiopathic Parkinson's disease: a prospective project developed in collaboration with researchers from the School of Psychology and Education of the University of Deusto, which includes 70 patients and 30 healthy controls. Started in January 2015, the study is evaluating the participants annually for a period of 3 years using magnetic resonance imaging, optical coherence tomography, neuropsychological and autonomic nervous system studies. This project is funded by the Michael J Fox Foundation (Rapid Response Innovation Awards 2015), Instituto Carlos III (Health Research Projects 2015 and 2016) and the Basque Government (Health Research Projects 2016).

- Study of vagus nerve stimulator: Cruces University Hospital and the Unit of Epilepsy are reference CSUR for Surgery of Epilepsy in the National Health System. In fact, Cruces University Hospital is the center in Spain that implants more stimulators of the vagus nerve, for that reason we have been able to study not only the effectiveness but also the safety of this device. In 2012 we were funded through the health department of the Basque Government with a project that has allowed us to quantify and describe the effects that the vagal stimulator has on the cardiac vegetative function. This year we have published the results of this analysis in the prestigious magazine Seizure. Previously we already published the efficacy results on epileptic seizures with this therapy.

- Study of cutaneous thermography in Parkinson's disease: We have recently begun to study the most distal portion of the vegetative nervous system, which is responsible for regulating sweating, thermal thresholds and vasoconstriction. The study, developed and funded by the Parkinson Association Bizkaia (ASPARBI), has enabled us to equip ourselves with a state-of-the-art thermographic camera, a sweat measuring device (SUDOSCAN) and a QST (quantitative sensory test). The objective is to study more than 100 patients and 100 controls to demonstrate the involvement of the small fibers in this Parkinson's disease.

- Study with induced pluripotential stem cells (iPSC) in mutations of alpha synuclein: Based on the fact that the E46K mutation in the SNCA gene is probably the best "in vivo" model of Parkinson's disease, we are now working to develop iPSC through the reprogramming of fibroblasts obtained by cutaneous biopsy of patients with Parkinson's disease and E46K-SNCA mutation. To date we are developing a collaborative project with researchers Dra. Rosario Pernaute (Andalusian Initiative for Advanced Therapies) y Vikram Khurana (Harvard Stem Cell Institute) to develop these cell lines and to study cellular, electrophysiological and molecular mechanisms of the mutation, with a specific interest in research on correcting this mutation.

- Study of skin in synucleinopathies using sudoscan, thermography and analysis of phosphorylated synuclein in cutaneous biopsies. We have conducted a study on the role of fine fiber in patients with genetically determined Parkinson's disease. The study was completed by performing skin biopsies and using immunohistochemical techniques to observe nerve fibers and AS deposition. This year the first results will be published.

- "Natural History of Synucleinopathies Study": 10-year multicenter international registry in patients with Multisystemic Atrophy, Parkinson's Disease and Dementia by Lewy Bodies, led by New York University researchers (NYU) and with our participation, including also centers from US (the University of Vanderbilt, Mayo Clinic, Beth Israel Deaconess Medical Center, Columbia University, among others), Europe (IIS Biocruces, University of Bolognia, UCL, University Hospital Bonn, Center Hospitalier Universitaire de Toulouse, Center Hospitalier Universitaire de Bordeaux, among others) and of South America (Valparaiso University, Foundation for the Fight against Neurological Diseases of Children). The project is sponsored by the National Institute of Neurological Disorders and Stroke (NINDS) and the National Center for Advanced Transversal Sciences (NCATS) as part of the NIH (U54NS065736-07).

- "Retinal abnormalities as a biomarker of disease progression and early diagnosis of Parkinson's disease": a sub-study of the "Natural History of Synucleinopathies Study", started in 2016 and lasts for 3 years, which is specifically oriented to prospectively analyze changes of the retina in patients with Parkinson's disease using optical coherence tomography and electrophysiology, identifying potential biomarkers of disease progression. The study is being sponsored by the Michel J Fox Foundation.

- Registry-HD study and Enroll-HD study: international multicenter observational studies on Huntington's disease (HD) whose overall objective is to favor the discovery and development of new therapies for HD. Our group was incorporated in 2013 into the Registry-HD study, a project promoted by the European Huntington Group which comprises 21 European countries with 175 participating centers and 14,867 subjects included, including prospective collection of neurological, cognitive, psychiatric, family and sample variables Biological. For more information: Our group also joined the Enroll-HD registry in 2015, an international project promoted by the American Huntington Foundation CHDI Foundation, which began in 2012, encompassing the Registry-HD. This is a global registry including participants from virtually every continent. For more information:

- "Frontotemporal Dementia and Genetics: Application of the Next Generation Sequencing to the determination of familiar forms": prospective observational project for the identification and clinical characterization of new genetic variants of frontotemporal dementia. Funded by the Department of Health of the Basque Government (Code 2012111099), and developed in coordination with Platforms of the Biocruces Research Institute (genetics and genomics and computational neuroimaging platform). Started in 2012 and currently underway.

- MUNGIALDE Study (2004-2006): a two-stage door-to-door epidemiological study with the aim of determining the prevalence of dementia in a rural and urban area of the Basque Country and identifying the risk factors associated with the region for dementia. This study has been pioneering at the European level from the epidemiological point of view and has been referenced and included in several publications and meta-analyzes. Funded by Pfizer SA and Fundación San Jose Etxealai de Munguía.

- DETCOGEN Project: multicenter prospective observational study aimed at identifying molecular biomarkers of susceptibility (polymorphisms and epigenetic alterations) for the development of Alzheimer's Disease in Mild Cognitive Impairment. Evaluations include genetic, neuropsychological, and neurological studies over 4 visits. It has the participation of the main hospitals of the Basque Country [Hospitals of Cruces, Galdakao and Basurto (Bizkaia), Txagorritxu (Alava) and Donostia (Gipuzkoa)]. The results of the project have been reflected in international publications of Alzheimer's disease in relation to markers such as COMT, Ubiquilina, 5-HT6. This is a proyect of the EITB Marathon announcement.

- COOPERA study: a multicenter study in which 115 centers-reference units of dementias of all Spain participated.

- Participation in international projects such as "Cost of illnes" or "willing to pay" studies, which measure the economic and social impact of Alzheimer's disease and dementia in general.

- Participation in consortia such as NEURONORMA (from 2002 to present) validation and obtaining normative data of neuropsychological scales in patients with mild cognitive impairment and Alzheimer's disease. Conclusions and normative data that have been published in international journals.

- Experience of participating in more than 64 Phase II and III clinical trials for prodromal Alzheimer's disease and mild cognitive impairment.

Science field

Physical Sciences

RIS3 Priorities
  • Biosciences & Health
Main researcher
Juan Carlos Gómez Esteban
Plaza de Cruces, 48903 Barakaldo, BI
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