Study Reviews

Supplementation with DHA as a treatment for spinocerebellar ataxia 38

  • 11/09/2017

Spinocerebellar ataxias (SCA) are a heterogeneous group of autosomal dominant neurodegenerative disorders which involve the cerebellum and 23 different genres (currently three main types are recognised based on the type of mutation involved) and whose worldwide prevalence is estimated to be approximately 5-7 cases per 100,000 people. They are characterised by loss of balance and lack of motor coordination (in gait, eye movement and movement of the extremities) which is normally related to cerebellar atrophy.

SCA38 is a recently identified form of spinocerebellar ataxia, caused by mutations in the ELOVL5 gene which encodes an elongase involved in the genesis of long-chain fatty acids. Patients with SCA38 have significantly low docosahexaenoic acid (DHA) serum levels.

A recent double-blind, randomised, placebo-controlled study, followed by an open period, carried out on 10 patients with SCA38 assessed the effect of DHA (40 weeks overall treatment) on these patients with respect to the clinical symptoms (with SARA (Scale for the Assessment and Rating of Ataxia) and ICARS (International Cooperative Ataxia Rating Scale)), the expression of ELOVL5 and brain activity measured by functional MRI.

After 16 weeks, the patients who received DHA showed a significant clinical improvement (on the SARA score) compared to the control subjects. At 40 weeks, this improvement was shown by both the SARA and ICARS scores, and the clinical data were corroborated by a significant improvement in cerebellar hypometabolism. The ELOVL5 serum expression dropped in relation to the baseline level.

Therefore, supplementation with DHA was shown to be a safe and effective treatment of SCA38.