Marta Manes1, Antonella Alberici1, Eleonora Di Gregorio2, Loredana Boccone3, Enrico Premi1, Nico Mitro4, Maria Pia Pasolini5, Claudia Pani3, Barbara Paghera6, Laura Orsi7, Chiara Costanzi8, Marta Ferrero9, Filippo Tempia10, Donatella Caruso4, Alessando Padovani1, Alfredo Brusco2, Barbara Borroni11. 1. Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. 2. Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy; Department of Medical Sciences University of Turin, Turin, Italy. 3. Ospedale Regionale Microcitemie, AOBrotzu, Cagliari, Italy. 4. Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy. 5. Neurophysiology Unit, "Spedali Civili", Brescia, Italy. 6. Department of Nuclear Medicine, University of Brescia, Brescia, Italy. 7. Neurologic Division 1 Department of Neuroscience and Mental Health AOU Città della Salute e della Scienza di Torino, Turin, Italy. 8. Neurology Unit, Cremona Hospital, Cremona, Italy. 9. Department of Medical Sciences University of Turin, Turin, Italy. 10. Neuroscience Institute Cavalieri Ottolenghi (NICO) and Department of Neuroscience, University of Turin, Turin, Italy. 11. Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address: bborroni@inwind.it.
Abstract
INTRODUCTION: Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation has been proven effective at short-term follow-up. In the present paper, we evaluated long-term safety and efficacy of 600 mg/day oral DHA in SCA38 by a 2-year open label extension study. METHODS: Nine SCA38 patients underwent standardised clinical assessment at 62 (T1), 82 (T2) and 104 (T3) weeks, and compared to pre-treatment scores (T0). Brain 18-Fluorodeoxyglucose Positron Emission Tomography and electroneurography were performed at T0 and T3. RESULTS: We found a significant maintenance of clinical symptom improvement at each follow-up time-point (p < 0.001) as compared to T0, a sustained increase of cerebellar metabolism at T3 as compared to T0 (p = 0.013), and no worsening of neurophysiological parameters. No side effect was recorded. CONCLUSIONS: Long-term DHA supplementation is an eligible treatment for SCA38.
INTRODUCTION:Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation has been proven effective at short-term follow-up. In the present paper, we evaluated long-term safety and efficacy of 600 mg/day oral DHA in SCA38 by a 2-year open label extension study. METHODS: Nine SCA38patients underwent standardised clinical assessment at 62 (T1), 82 (T2) and 104 (T3) weeks, and compared to pre-treatment scores (T0). Brain 18-Fluorodeoxyglucose Positron Emission Tomography and electroneurography were performed at T0 and T3. RESULTS: We found a significant maintenance of clinical symptom improvement at each follow-up time-point (p < 0.001) as compared to T0, a sustained increase of cerebellar metabolism at T3 as compared to T0 (p = 0.013), and no worsening of neurophysiological parameters. No side effect was recorded. CONCLUSIONS: Long-term DHA supplementation is an eligible treatment for SCA38.
Authors: José Gazulla; Elvira Orduna-Hospital; Isabel Benavente; Ana Rodríguez-Valle; Pedro Osorio-Caicedo; Sara Alvarez-de Andrés; Elena García-González; Jesús Fraile-Rodrigo; Francisco Javier Fernández-Tirado; José Berciano Journal: J Neurol Date: 2020-04-20 Impact factor: 4.849