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Friedreich ataxia

Research Center
Research Area

Supervisor

Dott. Andrea Martinuzzi
Neurologist, Research Unit coordinator
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Team

Dott.ssa Gabriella Paparella
Physiatrist
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Dott.ssa Elisabetta Rosati
Physiatrist
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Dott.ssa Marinela Vavla
Researcher
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Contacts

+39 0438 414242

 

Description

Friedreich ataxia is a rare neurodegenerative disease presenting in the second decade with progressive impairments in coordination, cardiopathy, bone deformities (e.g. scholiosis) sensitive neuropathy and involvement of sight, hearing and glycemic control. It is caused by a defect in the mitochondrial protein Frataxin due in 95% of patients to a DNA GAA expansion in the first intron of the frataxin gene. As of today there are no effective therapies for this disease, but many clinical trials are underway to test the effectiveness of various interventions. A common problem of these trials is that they rely as end points on validated clinical scales which lack in the short term (6-12 months) the needed sensibility to changes. The research we are developing in our Institute aims at the identification and validation of objective sensible biomarkers of disease which could be employed as indicators of disease progression and possible response to treatment. The biomarkers we are testing are based on advanced neuroimaging (DTI, MRS, f-RMN).

On the same disease we are also testing the efficacy of targeted and personalized intensive rehabilitation interventions, in which we define with each subject the relevant goals he/she wants to achieve. WE are also testing the potential additive effect of neuromodulation in the form of direct transcranic electrical stimulation (t-DCS).

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

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