Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38
Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B
Annals of neurology · 27 citations
How it was studied
- Design
- Randomized controlled trial (indexed by PubMed)
- Studied in
- People
- Main outcome
- Health markers and function
Who paid for it
- Funding
- Independent funding
- Nonprofit
- Fondazione Telethon
- Nonprofit
- Telethon
- Grants
- Fondazione Telethon (GGP14225)
Based on 2 listed funder(s) and full-text disclosure statement.
Publication
- Published
- 2017-10-01 · Ann Neurol · vol. 82 · issue 4 · pp. 615–621
- Publisher
- Wiley
- Cited
- 38 citations · more than 86% of similar papers · 1.9× the field average
- References
- 26 works
- Access
- Open access (hybrid journal) · CC-BY-NC
- Research areas
- Fatty Acid Research and Health · Lipid metabolism and biosynthesis · Genetic Neurodegenerative Diseases
- Keywords
- Spinocerebellar ataxia, Docosahexaenoic acid, Ataxia, Internal medicine, Gastroenterology, Placebo, Medicine, Pathology, Fatty acid, Polyunsaturated fatty acid, Biology, Biochemistry, Disease
- MeSH
- brain, humans, spinocerebellar ataxias, fluorodeoxyglucose f18, docosahexaenoic acids, positron-emission tomography, electromyography, treatment outcome, follow-up studies, double-blind method, mutation, dietary supplements, adult, middle aged, female, male, ataxins, outcome assessment, health care
20 authors
From US, IT, BY, ZA, CH
- Marta Antonia ManesBrescia University; University of Brescia
- Antonella AlbericiBrescia University; University of Brescia
- Eleonora Di GregorioDepartment of Medical Sciences; University of Turin
- Loredana BocconeOspedale Microcitemico
- Enrico PremiBrescia University; University of Brescia
- Nico MitroUniversity of Milan
Abstract
Objective
Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In the present study, we evaluated the safety of DHA supplementation, its efficacy for clinical symptoms, and changes of brain functional imaging in SCA38 patients.
Methods
We enrolled 10 SCA38 patients, and carried out a double-blind randomized placebo-controlled study for 16 weeks, followed by an open-label study with overall 40-week DHA treatment. At baseline and at follow-up visit, patients underwent standardized clinical assessment, brain 18-fluorodeoxyglucose positron emission tomography, electroneurography, and ELOVL5 expression analysis.
Results
After 16 weeks, we showed a significant pre-post clinical improvement in the DHA group versus placebo, using the Scale for the Assessment and Rating of Ataxia (SARA; mean difference [MD] = +2.70, 95% confidence interval [CI] = +0.13 to + 5.27, p = 0.042). At 40-week treatment, clinical improvement was found significant by both SARA (MD = +2.2, 95% CI = +0.93 to + 3.46, p = 0.008) and International Cooperative Ataxia Rating Scale (MD = +3.8, 95% CI = +1.39 to + 6.41, p = 0.02) scores; clinical data were corroborated by significant improvement of cerebellar hypometabolism (statistical parametric mapping analyses, false discovery rate corrected). We also showed a decreased expression of ELOVL5 in patients' blood at 40 weeks as compared to baseline. No side effect was recorded.
Interpretation
DHA supplementation is a safe and effective treatment for SCA38, showing an improvement of clinical symptoms and cerebellar hypometabolism. Ann Neurol 2017;82:615-621.
Abstract via Europe PMC. Copyright remains with the authors or publisher (CC BY-NC).
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