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

Di Gregorio, Eleonora;Ferrero, Marta;Tempia, Filippo;Brusco, Alfredo;
2019

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.
PARKINSONISM & RELATED DISORDERS
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www.elsevier.com/locate/parkreldis
Ataxia; Cerebellum; Clinical trial; Docosahexaenoic acid (DHA); Spinocerebellar ataxia 38 (SCA38); Neurology; Geriatrics and Gerontology; Neurology (clinical)
Manes, Marta; Alberici, Antonella; Di Gregorio, Eleonora; Boccone, Loredana; Premi, Enrico; Mitro, Nico; Pasolini, Maria Pia; Pani, Claudia; Paghera, Barbara; Orsi, Laura; Costanzi, Chiara; Ferrero, Marta; Tempia, Filippo; Caruso, Donatella; Padovani, Alessando; Brusco, Alfredo; Borroni, Barbara*
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1694891
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