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Open Access 01-12-2020 | Case report

Docosahexaenoic acid in ARSACS: observations in two patients

Authors: Ivana Ricca, Alessandra Tessa, Rosanna Trovato, Giacomo Maria Bacci, Filippo Maria Santorelli

Published in: BMC Neurology | Issue 1/2020

Abstract

Background

Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs.

Case presentation

Two siblings harboring biallelic variants in SACS underwent oral supplementation (600 mg/die) with docosahexaenoic acid (DHA), a well-tolerated dietary supplement currently used in SCA38 patients. We assessed over a 20 month-period clinical progression using disease-specific rating scales.

Conclusions

DHA was safe over a long period and well-tolerated by the two patients; both showed a stabilization of clinical symptoms, rather than the expected deterioration, warranting additional investigations in patients with mutations in SACS.

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Title: Docosahexaenoic acid in ARSACS: observations in two patients
Authors: Ivana Ricca
Alessandra Tessa
Rosanna Trovato
Giacomo Maria Bacci
Filippo Maria Santorelli
Publication date: 01-12-2020
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2020
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-020-01803-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Docosahexaenoic acid in ARSACS: observations in two patients

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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