Program 2: Parkinson's disease and other neurodegenerative movement disorders
This Program 2 brings together basic and clinical research groups with a mainly translational character, joining forces to study neurodegenerative diseases of different etiology that cause important problems in patient’s mobility. Among this group of diseases we can find, by decreasing prevalence: Parkinson’s disease, Huntington’s chorea, and different kinds of ataxias among other movement disorders.
Research Line 1: Parkinson’s disease
Parkinson’s disease (PD) is mainly characterized by neuronal loss, the formation of Lewy bodies and neurites in the substantia nigraand the consequent loss of striatal dopamine (DA). However, it is currently well known that PD is a multisystem neurodegenerative process, in which, as the neurodegenerative process evolves, many areas of the nervous system are affected and there exists a deficit in several neurotransmission and neuromodulation systems. It is estimated to affect around 70,000 people in Spain, a figure that is expected to be increasing due to the progressive aging of the population.
Although preventing and correcting DA deficit are still important goals, they cannot be considered the ultimate challenge in PD nowadays. Within this area, it is considered of vital importance to make progress on defining the following issues:
- Key aspects related to the ethiopathogenesis in PD.
- Physiopatological mechanisms related to disease onset and progression.
- Development of symptomatic treatments, especially neuroprotective and curative. Thus, a truly translational research is sought, having the disease and the patients as the main targets.
In this way, it is sought to achieve a true translational research nature, whose main objectives are the disease and the patient.
The main research topics in this line are the following:
- Cognitive impairment and non-motor problems in PD.
- Biomarkers in Parkinson’s disease.
- Problems related to symptomatic treatment: diskynesias.
- New targets and novel therapeutic strategies in Parkinson’s disease.
- Circuits and physiopathology of basal ganglia.
- Neuronal stress, cell protection and death in Parkinson’s disease.
- Neurogenesis and cell therapy in Parkinson’s disease.
- Early biomarkers in Parkinson’s disease.
Research Line 2: Huntington’s disease and ataxias
This program also focuses on research into other movement disorders such as Huntington’s disease (HD) and ataxias. HD is characterized by the initial loss of spiny interneurons of the striatum.It is an autosomal dominant neurodegenerative pathology with complete penetrance produced by polyglutamine expansion in the huntingtin N-terminus. HD has no treatment and leads to death in around 10-20 years depending on the number of polyglutamines, the age of onset, some unknown environmental factors and the modulation of some genes, some of which have been located but remain unidentified. The estimated prevalence of HD is 10 cases for every 100,000 persons, which means 4,500 patients in Spain and about 50,000 in the European Union. Its social health cost is considerable because of the importance of cognitive and motor deficits, as well as the severe behavioral problems that patients present.
There is a large number of studies with neuroprotective drugs which modify the supposed pathogenic mechanisms or that are used in other neurodegenerative diseases. These drugs include inhibitors of neuronal excitation, coenzymes of the respiratory chain, vitamins, antioxidants, co-adjuvants in energy production, etc. Some of these products offer encouraging results in experimental models of the disease but, unfortunately, not confirmed in the clinic.
The study of HD is important because is the best studied and most prevalent model of neurodegenerative diseases caused by triplet expansions, which also includes some ataxias. Discovering the pathogenic mechanisms of HD and finding an effective, either neuroprotective or curative, would have immediate implications on any of the other neurodegenerative pathologies caused by triplet expansions.
The main research topics in this line are the following:
- Identification of molecular and cellular basis of Huntington’s disease.
- Experimental studies in animal models of Huntington’s disease.
- Clinic, genetics and neuropathology of Huntington’s disease.
Research Line 3: Neurodegenerative motor disorders
Neuromuscular diseases (NMDs) form a heterogeneous group of pathologies affecting the spinal cord and its tracts, nerve roots as well as motor and sensitive peripheral nerves, the neuromuscular junction and muscles. Diagnosis involves using sophisticated methods covering: neurophysiological studies, muscle or nerve biopsy with the use of immunohistochemical techniques and some others, metabolic analysis and tests, RMN studies, quantitative muscle assessment, and in many cases, genetic studies.
Just a few epidemiological studies are available in Spain, from which it can be inferred that the prevalence of chronic neurodegenerative and/or hereditary pathology would account for around 60,000 patients in our country.
Members of the neuromuscular pathology program are committed to investigate into specific aspects including:
- Clinical characterization of neuromuscular pathologies and correlation between the clinical phenotype and their genotype (or proteomic characterization). Development of animal models based on the genotypically identified dystrophies.
- Research on the physiopathology of neuromuscular diseases.
- Development of new therapeutic strategies.
|Alberch Vié, Jordi||Universidad de Barcelona||+Info|
|Ceña Callejo, Valentín||Universidad de Castilla La Mancha, Albacete||+Info|
|Cuadrado Pastor, Antonio||Universidad Autónoma de Madrid||+Info|
|Del Río Fernández, José Antonio||Instituto de Bioingeniería de Cataluña, Barcelona||+Info|
|Fariñas Gómez, Isabel||Universidad de Valencia||+Info|
|Fernández Ruiz, Javier||Universidad Complutense de Madrid||+Info|
|Fuentes Rodríguez, José Manuel||Universidad de Extremadura, Cáceres||+Info|
|Franco Fernández, Rafael||Universidad de Barcelona||+Info|
|García Verdugo, José Manuel||Instituto Cavanilles, Universidad de Valencia||+Info|
|Guzmán Pastor, Manuel||Universidad Complutense de Madrid||+Info|
|Iglesias Vacas, Teresa||Instituto de Investigaciones Biomédicas CSIC-UAM, Madrid||+Info|
|Kulisevsky Bojarski, Jaime||Hospital Santa Creu i Sant Pau, Barcelona||+Info|
|Labandeira-García, José Luis||Universidad de Santiago de Compostela||+Info|
|Lanciego Pérez, José||Centro de Investigación Médica Aplicada, Univ. Navarra, Pamplona||+Info|
|López Barneo, José||Hospital Universitario Virgen del Rocío, Universidad de Sevilla||+Info|
|Lucas Lozano, José Javier||Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Madrid||+Info|
|Moratalla Villalba, Rosario||Instituto Cajal CSIC, Madrid||+Info|
|Naranjo Orovio, José Ramón||Centro Nacional de Biotecnología, CSIC, Madrid||+Info|
|Obeso Inchausti, José||Fundación Hospital de Madrid||+Info|
|Pérez Castillo, Ana María||Instituto de Investigaciones Biomédicas CSIC-UAM, Madrid||+Info|
|Pérez Tur, Jordi||Institut de Biomedicina de Valencia-CSIC||+Info|
|Rodríguez Díaz, Manuel||Universidad de La Laguna, Tenerife||+Info|
|Tolosa Sarró, Eduardo||Hospital Clínic de Barcelona||+Info|
|Vicario Abejón, Carlos||Instituto Cajal, CSIC, Madrid||+Info|
|Vila Bover, Miquel||Hospital Universitario Valle de Hebrón, Barcelona||+Info|
Program 2 is coordinated by Drs José. J. Lucas (Center for Molecular Biology, CSIC, Madrid), Eduardo Tolosa (Clinical Hospital, Barcelona), Adolfo López de Munain Arregui (Biodonostia Research Institute, San Sebastián), Rafael Fernández Chacón (University of Seville), Teresa Iglesias Vacas (Biomedical Research Institute CSIC-UAM, Madrid) and Isabel Fariñas Gómez (University of Valencia).