Movement disorders

The Movement Disorders Research Center studies movement disorders, such as Parkinson’s disease, tremor and dystonia, by means of a translational approach that involves both basic and clinical research units. The aim is to characterize molecular, cellular and phenotypic disease markers in humans and, at the same time, identify possible targets for new drug therapies.

The Cellular and Molecular Neurobiology Unit uses biochemical, immunohistochemical, molecular and electrophysiological techniques to identify the changes in cellular and molecular mechanisms responsible for the neurological deficits that characterize these disorders. To this end, it uses both animal and cell models, as well as biological samples (e.g., blood, skin biopsies) obtained from patients. The identification of mutations responsible for familial forms of different movement disorders, such as forms of monogenic parkinsonism and of hereditary dystonia, has in fact made it possible to generate the genetic models that are essential in order to characterize their underlying pathophysiological mechanisms. The Unit uses sophisticated techniques in order to characterize molecular changes affecting the functions of intracellular organelles, such as mitochondria and lysosomes, and new technologies for studying extracellular vesicles, in particular with the aim of characterizing them on the basis of their pathological protein (e.g., alpha-synuclein, tau) content.

The above Unit’s preclinical research also includes the study of functional alterations in biological samples from subjects with REM sleep behavior disorder (RBD) — a main marker of prodromal Parkinson’s disease. This particular activity is integrated with that of the Sleep Medicine & Epilepsy Research Unit, in which internationally validated diagnostic algorithms and highly specialized instrumental examinations are used to define clinical and pathophysiological aspects of the different disorders, and therefore to characterize relationships between neurodegenerative diseases (Parkinson’s disease, parkinsonisms, dementia) and sleep. A particular focus is the study of phenotypic disease markers, which are used to define different disease phases, and therefore to characterize disease evolution.

The Sleep Medicine & Epilepsy Research Unit’s use of highly specialized neurophysiological instrumental methods, including the study of brain activity through high-density EEG, is an integral part of its activity.

Integration of preclinical and clinical data, in collaboration with staff from clinical units (Parkinson’s disease, dementia) guarantees the translational approach of the research carried out by the Movement Disorders Center.

These activities are carried out as part of research projects funded by national and international public and private bodies.

International collaborations

• Institute of Neurology, University College London (UK)
• Department of Neurobiology, The University of Alabama, Birmingham (USA)
• Department of Neurology, University of Wuerzburg (Germany)
• Institut des Maladies Neurodégénératives (IMN), Bordeaux (France)
• Institut für Medizinische Genetik und angewandte Genomik, Tubingen (Germany)
• Deutsches Zentrum für Neurodegenerative Erkrankungen, Bonn (Germany)
• George Washington University Movement Disorders, (GWU, USA)
• Catholic University of Leuven (Belgium)
• Emory University (Atlanta, USA)
• The Hebrew University of Jerusalem (Israel)
• International RBD Study Group