Docosahexaenoic Acid in ARSACS: Observations in Two Patients

Overview

Journal BMC Neurol

Publisher Biomed Central

Specialty Neurology

Date 2020 May 30

PMID 32466761

Citations 4

Authors

Ivana Ricca

Alessandra Tessa

Rosanna Trovato

Giacomo Maria Bacci

Filippo Maria Santorelli

Affiliations

Soon will be listed here.

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.

Citing Articles

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.

Ferrero E, Di Gregorio E, Ferrero M, Ortolan E, Moon Y, Di Campli A Hum Genet. 2023; 142(8):1055-1076.

PMID: 37199746 PMC: 10449689. DOI: 10.1007/s00439-023-02572-y.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Tremblay M, Girard-Cote L, Brais B, Gagnon C Orphanet J Rare Dis. 2022; 17(1):369.

PMID: 36183078 PMC: 9526980. DOI: 10.1186/s13023-022-02497-1.

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Bagaria J, Bagyinszky E, An S Int J Mol Sci. 2022; 23(1).

PMID: 35008978 PMC: 8745260. DOI: 10.3390/ijms23010552.

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

Morani F, Doccini S, Chiorino G, Fattori F, Galatolo D, Sciarrillo E Front Neurol. 2021; 11:603774.

PMID: 33584503 PMC: 7873355. DOI: 10.3389/fneur.2020.603774.

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