Docosahexaenoic acid in ARSACS: observations in two patients
Open Access
- 28 May 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in BMC Neurology
- Vol. 20 (1), 1-4
- https://doi.org/10.1186/s12883-020-01803-3
Abstract
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. 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. 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.Funding Information
- Ministero della Salute (RF-2016-02361610)
- Ministero della Salute (PREPARE MoH; project 3398)
This publication has 18 references indexed in Scilit:
- Targeting mTORs by omega-3 fatty acids: A possible novel therapeutic strategy for neurodegeneration?Pharmacological Research, 2018
- Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measuresJournal of the Neurological Sciences, 2018
- Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38Annals of Neurology, 2017
- Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxiaPharmacological Research, 2015
- Clinical presentation and early evolution of spastic ataxia of Charlevoix‐SaguenayMovement Disorders, 2013
- Effects of eicosapentaenoic acid and docosahexaenoic acid on low-density lipoprotein cholesterol and other lipids: A reviewJournal of Clinical Lipidology, 2012
- Neuroprotectin D1-mediated anti-inflammatory and survival signaling in stroke, retinal degenerations, and Alzheimer's diseaseJournal of Lipid Research, 2009
- Brain metabolism of nutritionally essential polyunsaturated fatty acids depends on both the diet and the liverProstaglandins, Leukotrienes & Essential Fatty Acids, 2007
- The Spastic Paraplegia Rating Scale (SPRS)Neurology, 2006
- Scale for the assessment and rating of ataxiaNeurology, 2006