Neurodegenerative disorders with motor manifestation

Description

Neurodegenerative conditions with impact on the motor function are characterized by a wide phenotype variability and genetic heterogeneity. Even within a given genetically homogeneous group of conditions the clinical variability can be relevant and conversely phenocopies with divergent molecular etiologies arecommon. A systematic phenotypic mapping with phenotype - genotype correlations and detailed naturalhistory can be achieved through the study of a large population followed continuously. Paradigmatic conditions in this group of diseases are the hereditary spastic paraplegias (HSP) and the spino cerebellar ataxias. No resolutive therapies are presently available for most of these conditions, but rehabilitation interventions may offer a valuable approach, as long as reliable and rigorous data are gathered on efficacy. The research activity at the Medea Research Institute concentrates on the identification and validation of efficient biomarkers as well as in the experimentation of innovative treatments.

Selected publications

• Vavla, M; Paparella, G; Merotto, V; Comiotto, J; Piai, J; Martinuzzi, A. Combining transcranial direct current stimulation and intensive physiotherapy in patients with Friedreich’s Ataxia: a pilot study. IARC, Pisa (Italy) 27-30 Sep 2017.
• Vavla M, Montanaro D, Arrigoni F, Rossi G, Nordio A, De Luca A, Agakhanyan G, Martino N, Baratto A, Paparella G, D’Angelo G, Martinuzzi A. Advanced neuroimaging in Hereditary Spastic Paraplegias and Friedreich's ataxia: towards objective biomarkers in diseases of motor control. SPATAX, Paris (France) Jun 2016.
• Rosati E., Carraro E., Paparella G., Petacchi E., Vavla M., Martinuzzi A. Valutazione della risposta alla riabilitazione intensiva per core stability in atassia di Friedreich mediante ecografia del muscolo trasverso dell’addome. XVI Congresso Nazionale SIRN, Ascoli Piceno (Italy) Apr 2016.
• Vavla M, Arrigoni F, Petacchi E, Nordio A, De Luca A, Russo E, Pizzighello S, Paparella G, Brighina E, D'Angelo G, Carraro E, Martinuzzi A. Potential neuroimaging biomarkers validated in Friedreich's Ataxia: DTI and functional Magnetic Resonance findings." International Ataxia Research Conference 29th March 2015 (Windsor UK).
• Vavla M. "Early onset hereditary neurodegenerative ataxias: a description of the pathologic modification pattern using advanced neuroimaging techniques and a neuropsychological study for the definition of paraclinical indicators in the monitoring the disease evolution and verification of treatment efficacy." Palazzo del Bo 26 Nov 2013 (Padova).

Partnerships

• Prof. Roberto Testi, Università di Roma Tor Vergata.
• Dr Angela Berardinelli, Fondazione Mondino, Pavia
• Dr Louise Corben, Murdoch Children's Research Institute, University of Melbourne
• Dr Ian Harding, University of Melbourne