Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

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 tomograph

SUBMITTER: Manes M 

PROVIDER: S-EPMC5698802 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature