Article
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Annals of neurology - 1 Oct 2017
Manes Marta, Alberici Antonella, Di Gregorio Eleonora, Boccone Loredana, Premi Enrico, Mitro Nico, Pasolini Maria Pia, Pani Claudia, Paghera Barbara, Perani Daniela, Orsi Laura, Costanzi Chiara, Ferrero Marta, Zoppo Adele, Tempia Filippo, Caruso Donatella, Grassi Mario, Padovani Alessandro, Brusco Alfredo, Borroni Barbara
Abstract excerpt
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...
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