Publications on ARSACS

February 19,2021- "From fuziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease" article published in IScience.

December 23, 2020-  "Docosahexaenoic acid in ARSACS: observations in 2 patients" published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

December 17, 2020 - "The importance of balancing Sacsin protein levels in ARSACS" article published in SCA Source.

October 13, 2020- An excellent source of information on  ARSACS published in the GeneReviews.
GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

February 14, 2020- Article " A new measuring stick for ARSACS" by Dr. Cynthia Gagnon  published in the SCA Source.

October 23, 2018 - “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

September 19, 2018- "From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, Orphanet Journal of Rare Diseases.

August 29, 2018- "An exploratory natural history of ataxia of Charlevoix-Saguenay", Dr Cynthia Gagnon, American Academy of Neurology.

June 21, 2018- "Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS", Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

May 29, 2017 - A research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

p="">List of publications on ARSACS from 1979 to January 19,2019