Postersession 1
Poster #: 19
Topic: Clinical applications (incl. consciousness)
Wednesday, Sep 9, 2015
1st floor

Attentive vulnerability to levodopa therapy in ataxia-telangiectasia patients: a MMN study

Daniela Mannarelli1, Caterina Pauletti2, Daniela D'Agnano3, Vincenzo Leuzzi3, Nicoletta Locuratolo2, Maria Caterina De Lucia2, & Francesco Fattapposta2

1Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
2Neurology and Psichiatry, Sapienza University of Rome, Rome, Italy
3Paediatrics, Child Neurology and Psychiatry,, Sapienza University of Rome, Rome, Italy

Ataxia-telangiectasia (AT) is caused by mutations in the ATM gene. The neural phenotype of AT includes progressive cerebellar neurodegeneration, which results in ataxia, oculocutaneous teleangiectasias, immunodeficiency, recurrent infections and proneness to cancer. No therapies are available for this disease. Experimental studies on mice showed severe degeneration of tyrosine hydroxylase-positive, dopaminergic nigro-striatal neurons, and their terminals in the striatum. The aim of the current study was to investigate the effects of the levodopa therapy on motor and attentional performance in AT patients using clinical and psychophysiological evaluation.

Three young AT-patients (age:12 years) underwent a neurological evaluation and a MMN recording in basal condition (T0) and at two times points after levodopa therapy (at 4 weeks–T1 and 8 weeks–T2). MICARS and UPDRS-III scales were administered in order to assess clinical disability. MMN parameters (for three different acoustic deviants: frequency, duration and intensity) were evaluated.

During the levodopa therapy, we observed a progressive reduction in latencies and an increase in amplitudes for all deviants. UPDRS-III values significantly improved after 8 weeks of L-dopa therapy.

Our data suggest that levodopa treatment significantly improves motor performance in AT-patients.

Additionally, preattentive auditory discrimination deficits appear to be ameliorated after levodopa therapy. These results induce us to hypothesize the presence of a dopaminergic dysfunction likely related to an involvement of the subcortical networks in AT-subjects as suggested by experimental studies. Moreover, from a clinical point of view, this evidence supports the potential role of levodopa in the treatment of patients with ataxia-telangiectasia.