Neurodegenerative Diseases

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

Donostialdea IHO E-mail

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

OSI Donostialdea E-mail
Dr. Javier Ruiz Martínez is a Clinical Neurologist at the Neurology Service of the Donostia University Hospital (Donostialdea IHO), and Doctor of Medicine and Surgery from the University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU) obtaining the extraordinary prize in 2012. He completed his MSc in Movement Disorders from the University of Murcia in 2011 and obtained the CIBERned (Network Centre for Biomedical Research in Neurodegenerative Diseases) scholarship in research intensification, between 2009 and 2011. Accredited as a Professor by UNIBASQ, he combines his care-providing activity in the Movement Disorders Unit of the Donostia University Hospital, 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, master’s theses, as well as doctoral theses.He is Co-Leader of the Neurodegenerative Diseases Department at the Biodonostia HRI, leading as Principal Investigator research projects subsidised by autonomous, national and international bodies. He collaborates in national consortia (COPPADIS), and in international consortiums such as the PPMI (The Parkinson´s Progressive Markers Iniciative) subsidized by the MIchael J. Fox Foundation. He is also a member of the Spanish Society of Neurology’s Study Group in Movement Disorders, has been a member of the board of directors of the Society of Neurology of the Basque Country, 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 constitute one of the main sources of disability in the population aged over 60 years, with notable repercussion on health service costs. The aim of this line of work is to advance in knowledge of the causal factors and physiopathology of these diseases, and to study possible therapeutic agents that contribute to controlling their symptoms or delaying their evolution. Translational research is therefore carried out comprising both clinical and basic studies (animal models, in-vitro, genetic, proteomic studies, etc.), with a multidisciplinary approach including the clinical monitoring of patient cohorts, brain imaging studies, and post-mortem histological studies both in patients and in animal models, molecular, genetic studies, etc.

The main aims are:

    • Clinical, neuropsychological, genetic and proteomic characterisation of these diseases.
    • Search for diagnostic and/or evolutionary biomarkers.
    • Development of cell and animal models.
    • Obtaining neural progenitor cells by means of reprogramming.
    • Study of human physiopathology and in animal models of several clinical aspects of neurodegenerative diseases.
    • Development of molecules with potential modulating effect on the course of the disease.

Main lines of research

Parkinson’s disease

    • Studies in genetic forms of Parkinson’s disease(both in patients and in relatives who are asymptomatic mutation carriers)
        • Studies of biomarkers in patients and asymptomatic LRRK2 mutation carriers (PPMI study).
        • Identification of new genes in families with several members affected (ROPAD study).
        • Study of the natural history of genetic Parkinson’s disease (PPMI study)
        • Histopathological study of viscera in patients and relatives with genetic Parkinson’s disease.
        • Design and testing of molecules with the potential to modulate PD associated to LRRK2 gene mutations.
        • Study of the animal model in flies with LRRK2 gene mutations.
        • Participation in clinical trials on molecules with specific activity for patients with LRRK2 gene mutations.
    • Study of idiopathic Parkinson’s Disease
        • Clinical monitoring of the national cohort of patients with Parkinson’s disease (COPPADIS study).
        • Study of PD markers in tears.
        • Ophthalmology study of synucleinopathy markers by means of OCT.
        • Participation in clinical trials.

Essential tremor

      • Search for endophenotypes and genomic and brain imaging study.

Huntington’s Disease

    • Neuropsychological study of patients and asymptomatic relatives with Huntington’s Disease.
    • Participation in clinical trials.


    • Clinical, neuropsychological and genetic characterisation of cerebellar ataxia.

Frontotemporal dementia

    • Studies in genetic forms of the disorder.
    • Clinical and molecular characterisation of alterations in the progranulin gene.
    • Identification of biomarkers in patients and asymptomatic progranulin mutation carriers.
    • Other molecular alterations in frontotemporal dementias.
    • Cognitive and behavioural studies.
    • Participation in International Consortiums (GENFI, TAU-Consortium) to identify early-onset biomarkers for the disorder.
    • Participation in the European FRONTIERS study to identify the incidence of frontotemporal dementia.
    • Participation in clinical trials on the treatment of FTD associated to progranulin mutation.

Alzheimer’s Disease

    • Studies to identify early-onset biomarkers.
    • Clinical trials.

Team Members

Name Surname
Center E-mail
Josune Alonso Martínez de Marañon Biogipuzkoa HRI
Patricia Alves Dias Biogipuzkoa HRI
Szymon Piotr Bajew Biogipuzkoa HRI
Alberto Bergareche Yarza Donostialdea IHO
Lorea Blazquez García Biogipuzkoa HRI
Ioana Croitoru Biogipuzkoa HRI
Igone Etxeberria Arrichabal UPV/EHU
Esther Fernandez Pardavila OSATEK
Alazne Gabilondo López Bidasoa IHO
Mikel García Puga Biogipuzkoa HRI
Gorka Gereñu Lopetegi Biogipuzkoa HRI
Ana Gorostidi Pagola Biogipuzkoa HRI
Haizea Hernández Eguiazu Biogipuzkoa HRI
Álvaro Herrero Reiriz Biogipuzkoa HRI
Andrés Jiménez Zúñiga Biogipuzkoa HRI
Maria Manterola Larrañaga Biogipuzkoa HRI
Ane Mínguez Olaondo Donostialdea IHO
Elisabet Mondragón Rezola Donostialdea IHO
Saioa Moragón Rodríguez Biogipuzkoa HRI
Fermín Moreno Izco Donostialdea IHO
Jon Ondaro Ezkurra Biogipuzkoa HRI
Laura Pérez Fernández Biogipuzkoa HRI
Ane Rubio Zulaika Biogipuzkoa HRI
Mikel Tainta Cuezva Goierri Alto Urola IHO
Ane Velasco Bilbao Biogipuzkoa HRI
Ana Vinagre Aragón Donostialdea IHO
Jose Luis Zuñiga Elizari Biogipuzkoa HRI

Scientific Output