Neurodegenerative Diseases

Group co-leader: Javier Ruiz Martínez, Ph.D.

Donostialdea IHO E-mail javier.ruizmartinez@osakidetza.eus

Group co-leader: Myriam Barandiaran Amillano, Ph.D.

OSI Donostialdea E-mail miriamjesus.barandiaranamillano@osakidetza.eus
Dr. Javier Ruiz Martínez is a Clinical Neurologist at the Donostia University Hospital (Donostialdea IHO), having earned his MSc in Movement Disorders from the University of Murcia in 2011 and his PhD in 2012 during the CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases) scholarship in research intensification, receiving an extraordinary award from the University of the Basque Country (UPV/EHU). He combines his care-providing activity with teaching as a collaborator of the UPV/EHU Faculty of Medicine and of the Doctoral and Master’s Programmes in Neuroscience run by the Department of Neurosciences. He annually directs final degree projects and doctoral theses.
He is Co-Leader of the Neurodegenerative Diseases Department at the Biodonostia HRI, with research projects subsidised by autonomous, national and international bodies, having collaborated in international consortiums such as the PPMI (Parkinson’s Progressive Markers Initiative) study since its creation in 2013. He is also a member of the Spanish Society of Neurology’s Study Group in Movement Disorders, in addition to collaborating in the assessment of ANEP (National Agency of Evaluation and Prospective) projects, and with different scientific journals for article reviews.
Dr. Myriam Barandiaran Amillano is a Clinical Psychologist, MSc in Clinical Neuropsychology and Doctor in Neuroscience from the University of the Basque Country (UPV/EHU), accredited as an Expert in Clinical Neuropsychology by the Official Council of the Spanish Association of Psychologists. A Neuropsychologist with the Donostia University Hospital (Donostialdea IHO) Neurology Service, she is also Co-Leader of the Neurodegenerative Diseases Group at the Biodonostia HRI. She collaborates with the GENFI (Genetic FTD Initiative) Health Research Authority and with different research programmes in cognitive aspects of neurodegenerative processes. She is a professor of the Master’s Degree Programme in Neuropsychology at the Autonomous University of Barcelona (UAB), the University of the Basque Country (UPV/EHU) and of the Master’s Degree in Neuropsychology and Education at the International University of La Rioja (UNIR). She supervises students taking their Master’s Degree in Neuropsychology at the Autonomous University of Barcelona (UAB), the National Distance Education University (UNED), the Universitat Oberta de Catalunya (UOC) as well as students taking their Bachelor’s and Master’s Degree in Psychology at the UPV/EHU. She has given numerous courses and papers on neuropsychological assessment in dementias, treating behavioural disorders and non-pharmacological therapies.

Strategic Objectives

Neurodegenerative diseases are one of the main sources of incapacity in the population over 60 years old with considerable repercussions on health system costs. The aim of this line of work is to find out more about the causal factors and physiopathology of these diseases as well as studying possible therapeutic agents that help control symptoms or delay their evolution. This involves carrying out translational research that includes both clinical and basic studies (animal models, in vitro studies, genetic, proteomics, etc.) with a multi-disciplinary focus involving studies of post-mortem cerebral and histological imagery in patients and animal models, molecular studies, genetic studies, etc.

The main aims are:

  • Clinical, neuropsychological, genetic and proteomic characterisation of these diseases.
  • Search for diagnostic and/or evolutionary bio-markers.
  • Developing cellular and animal models.
  • Obtaining neural progenitors by means of reprogramming.
  • Studying the human physiopathology and animal models of different clinical aspects of neurodegenerative diseases.

Main lines of research

  • Parkinson’s disease.
      • Studies on genetic forms of the disease and family members carrying mutations.
              • Studies of biomarkers in patients and asymptomatic carriers of LRRK2 gene mutations.
              • Identification of new genetic forms in families.
              • Natural history of genetic Parkinson’s disease.
      • Cognitive and behavioural studies (dementia / cognitive deterioration and Impulse Control Disorder).
            • Physiopathological characterisation of Impulse Control Disorder.
            • Clinical study on Impulse Control Disorder incidence and risk factors in Spain.
            • Multi-centre clinical study in Spain on treatment for Impulse Control Disorder.
            • Study of early bio-markers for cognitive deterioration associated with Parkinson’s Disease.
      • Physiopathological characterisation of dyskinesia and impulsive disorder in animal models.
      • Histopathological study of bowel dysfunction in patients and family members with Parkinson’s disease.
  • Essential tremors.
      • Search for endophenotypes and genomic and cerebral imagery study.
  • Frontotemporal dementia and other dementias.
    • Clinical and molecular characterisation of alterations to the progranulin gene and other associated genes.
    • Other molecular alterations in frontotemporal dementias.
  • Neuropsychiatric diseases: psychosis and depression.
    • Psychosis: studies of family ties and/or association with diagnosis of schizophrenia or bipolar disorder.
    • Depression: neuroinflammatory markers in depression and its treatment.
      • Translational project aiming to take a clinical problem to a lab assessment. This aims to investigate by measuring proinflammatory and anti-inflammatory factors and neuro-glial injury in periphery blood in patients with depression.
    • First psychotic episodes.
      • Awareness of illness in first psychotic episodes. Explanatory models and predictive value in the therapeutic response.
      • Consumption of nicotine in patients with recently initiated schizophrenia. An explanatory model from the hypothesis of self-medication and assessment of its incidence on the progress of the disease.
    • Cognitive functions.
      • Impact of combined treatment (PegInterferon-alpha (PegInterferon-alpha Ribavirin) on cognitive functions of patients with Chronic Hepatitis due to the Hepatitis C virus.
    • Metabolomics applied to detecting biomarkers in schizophrenia.

Team Members

Name Surname
Center E-mail
Marta Alonso Pinedo Donostialdea IHO
Patricia Alves Dias Biodonostia HRI patricia.alves@biodonostia.org
Silvia Arostegui Uranga Donostialdea IHO silvia.arosteguiuranga@osakidetza.eus
Alberto Bergareche Yarza Donostialdea IHO alberto.bergarecheyarza@osakidetza.eus
Lorea Blazquez García Biodonostia HRI lorea.blazquez@biodonostia.org
Ioana Croitoru Biodonostia HRI ioana.croitoru@biodonostia.org
María De Arriba Sánchez Donostialdea IHO maria.dearribasanchez@osakidetza.eus
Igone Etxeberria Arrichabal UPV/EHU igone.etxeberria@ehu.eus
Esther Fernandez Pardavila OSATEK efernandez@osatek.net
Alazne Gabilondo López Bidasoa IHO alazne.gabilondolopez@osakidetza.eus
Mikel García Puga Biodonostia HRI mikel.garcia@biodonostia.org
Ana Gorostidi Pagola Biodonostia HRI ana.gorostidi@biodonostia.org
Haizea Hernández Eguiazu Biodonostia HRI haizea.hernandez@biodonostia.org
Maria Begoña Indakoetxea Juanbeltz Donostialdea IHO begona.indacoecheajuanbeltz@osakidetza.eus
Ane Mínguez Olaondo Donostialdea IHO
Elisabet Mondragón Rezola Donostialdea IHO elisabet.mondragonrezola@osakidetza.eus
Fermín Moreno Izco Donostialdea IHO
Imanol Querejeta Ayerdi Donostialdea IHO imanol.querejetaayerdi@osakidetza.net
Mikel Tainta Cuezva Goierri Alto Urola IHO mikel.taintacuezva@osakidetza.eus
Ane Velasco Bilbao Biodonostia HRI ane.velasco@biodonostia.org
Ana Vinagre Aragón Donostialdea IHO ana.vinagre@biodonostia.org
Saioa Yurrita Montesinos Donostialdea IHO saioa.yurritamontesinos@osakidetza.eus

Scientific Output

NIVELES DE ACIDO URICO Y OTROS METABOLITOS PLASMATICOS Y EL RIESGO DE DESARROLLAR ENFERMEDAD DE PARKINSON EN LAS COHORTES DE GUIPUZCOA NAVARRA Y MURCIA DEL ESTUDIO PROSPECTIVO EUROPEO SOBRE NUTRICION Y CANCER EPIC
Código: 2016111098
Investigador Principal (IP): ALBERTO BERGARECHE YARZA
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2016-12-01
Fecha de finalización: 2020-12-31
Importe Concedido: 72.848,00 €
EVALUACION DEL SISTEMA CRISPR-DCAS13 COMO ESTRATEGIA DE MEDICINA PERSONALIZADA EN ENFERMEDADES NEURODEGENERATIVAS:ESTUDIOS IN VITRO Y EN UN MODELO ANIMAL DE ATROFIA MUSCULAR ESPINAL (AME)
Código: PI19/00468
Investigador Principal (IP): LOREA BLAZQUEZ GARCIA
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2022-12-31
Importe Concedido: 183.920,00 €
DISEÑO DE BIOMARCADORES PARA DEMENCIA FRONTOTEMPORAL ASOCIADA A MUTACIONES EN GRN
Código: PI19/01637
Investigador Principal (IP): FERMIN MORENO IZCO
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2022-12-31
Importe Concedido: 107.690,00 €
B12 EN ENFERMEDAD DE PARKINSON IDIOPATIA Y ASOCIADA A LRRK2: CORRELACION CLINICA Y EVALUACION DE EFICACIA PRECLINICA DE ANALOGOS DE B12 EN UNA PLATAFORMA BASADA EN EL MODELO DE COHESION CENTROSOMAL
Código: PI19/01653
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: ISCIII INSTITUTO DE SALUD CARLOS III
Fecha de Inicio: 2020-01-01
Fecha de finalización: 2022-12-31
Importe Concedido: 111.320,00 €
TRATAMIENTO MULTIDISCIPLINAR DE LOS TRASTORNOS DEL MOVIMIENTO DE ORIGEN FUNCIONAL
Código: 20BU212
Investigador Principal (IP): ELISABET MONDRAGON REZOLA
Entidad Financiadora: OSI DONOSTIALDEA
Fecha de Inicio: 2019-10-01
Fecha de finalización: 2021-09-30
Importe Concedido: 12.386,00 €
ESTUDIO MULTICENTRICO PARA LA VALIDACION DE LA TOMOGRAFIA DE COHERENCIA OPTICA MACULAR COMO BIOMARCADOR DIAGNOSTICO Y PRONOSTICO EN LOS SINDROMES PARKINSONIANOS
Código: 2019111100/BD
Investigador Principal (IP): JAVIER RUIZ MARTINEZ
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2019-11-30
Fecha de finalización: 2022-11-30
Importe Concedido: 26.585,00 €
PROGRAMA DE MEJORA DE LA CALIDAD ASISTENCIAL AL PACIENTE CON ENFERMEDAD DE PARKINSON Y OTROS PARKINSONISMOS DURANTE EL INGRESO HOSPITALARIO.ORGANIZACION DE LA ASISTENCIA Y CREACION DE UN CIRCUITO DE ATENCIÓN ESPECIALIZADO
Código: 21BU214
Investigador Principal (IP): ANA VINAGRE ARAGON
Entidad Financiadora: DEPARTAMENTO DE SALUD
Fecha de Inicio: 2020-10-01
Fecha de finalización: 2021-09-30
Importe Concedido: 4.553,75 €