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.
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment : an open label extension study / M. Manes, A. Alberici, E. Di Gregorio, L. Boccone, E. Premi, N. Mitro, M.P. Pasolini, C. Pani, B. Paghera, L. Orsi, C. Costanzi, M. Ferrero, F. Tempia, D. Caruso, A. Padovani, A. Brusco, B. Borroni. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 63(2019 Jun), pp. 191-194.
|Titolo:||Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment : an open label extension study|
|Parole Chiave:||Ataxia; Cerebellum; Clinical trial; Docosahexaenoic acid (DHA); Spinocerebellar ataxia 38 (SCA38)|
|Settore Scientifico Disciplinare:||Settore BIO/10 - Biochimica|
|Data di pubblicazione:||giu-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.parkreldis.2019.02.040|
|Appare nelle tipologie:||01 - Articolo su periodico|