Publications on ARSACS

Alterations in the Na+/H+Exchanger NHE6 and Glutamate Transportersmay Influence Purkinje Cell Fate in ARSACS – Louis-Charles Masson, Atchaya S. Kanagasabai, Brenda Toscano Márquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J. Watt, R. Anne McKinney. Research by Louis-Charles Masson and colleagues..

Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay – . An article published in BMC Medical Genomics in 2025..

Scalp acupuncture combined with physiotherapy for ARSACS – . A case report published in China in the Helyion Journal in 2024..

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report – . Research conducted in Uruguay and published in the Journal of Medical Case Reports in August 2025..

Long-term benefits of TUDCA supplement in ARSACS zebrafish model – Dr. Valentina Naef. Research by Dr. Valentina Naef and her team, published in Scientific Reports in July 2025..

Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay – Dr. Federico Herrera. Based on the work of Dr. Federico Herrera and colleagues, published in July 2025 in Archives of Biochemistry and Biophysics..

S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix‑Saguenay – Dr. Federico Herrera. Research published in the journal Molecular Neurobiology.. This research has been funded by the ARSACS Foundation in 2022-2023

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies – Dr. Francesca Maltecca. Research published in The Annals of Neurology in May 2025..

An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study – . Research conducted as part of the PROSPAX consortium, published in the European Journal of Neurology..

Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS – Dr. Daniele Galatolo. Published in The Cerebellum in January 2025..

Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia – Dr. Francesca Maltecca. Research published in the Annals of Neurology library on December 6, 2024..

ARSACS: Clinical Features, Pathophysiology and iPS‑Derived Models – Dr. Nicolas Dupré. Research by Dr. Nicolas Dupré and his team published in The Cerebellum..

Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay – Dr. Francesca Maltecca. Published in the Brain Communications Journal on July 18, 2024.. The research has been funded by the ARSACS Foundation

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter Study (PROSPAX) – . PROSPAX results published in the National Library of Medicine..

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX) – . First PROSPAX results published in the National Library of Medicine..

Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay – Dr. Stefan Strack. Dr. Strack’s article published in The Cerebellum in May 2024..

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population – . Research conducted in Iran and published in The Cerebellum in April 2024..

Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis – Dr. Benoit Gentil. Dr. Gentil’s article on the functions of sacsin published in preprint in BioRvix..

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration – Dr. Kari J. Ekenstedt. Research published in Human Genetics in September, 2023..

A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS – Dr. Alanna Watt, Dr. Anne McKinney. Research from McGill University published in Neurobiology of Disease..

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model – Dr. Francesca Maltecca. Research by Dr. Maltecca published in JCI Insights, May 2023..

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay – Dr. Nicolas Dupré. Research article by Dr. Nicolas Dupré published in Stem Cells International..

AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity – Dr. Paul Chapple. Published in Frontiers, January 13, 2023..

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization – Dr. Justin Wolter, Dr. Paul Chapple. Research article published in Cell Reports..

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – Dr. Mohan Babu. Research published by Elsevier in September 2022..

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra – . Research conducted in Iran and published in The Cerebellum in 2022..

Recessive cerebellar and afferent Ataxias – clinical challenges and future directions – Dr. Nicolas Dupré. Published in Nature Reviews | Neurology journal..

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments – Dr. Federico Herrera. Research published in the Cells Journal on January 16, 2022..

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS – Dr. Suran Nethisingle, Dr. Paola Giunti. Published in the International Journal of Molecular Medicine in October 2021..

Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice – Dr. Alanna Watt, Dr. Anne McKinney. Published in the Frontiers Journal..

Functional mobility in walking adult population with ataxia Charlevoix-Saguenay – Dr. Cynthia Gagnon. Published in Orphanet Journal of Rare Diseases..

Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis – Dr. Francesca Maltecca. Research paper published in Neurology..

The ataxia protein sacsin is required for integrin trafficking and synaptic organization – . Article submitted for publication by ARSACS researchers..

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers – Dr. Paola Giunti. Published in Research Article in March 2021..

From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease – Dr. Mohan Babu. Article published in IScience..

Ciliary Ganglioplegic Migraine Associated with SACS Mutation – . Published in the Journal of Ophthalmology and Visual Sciences..

Docosahexaenoic acid in ARSACS: observations in 2 patients – . Published in BMC Neurology. Does not necessarily reflect the positions of the ARSACS Foundation..

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay – . Published in Frontiers in Genetics..

The importance of balancing Sacsin protein levels in ARSACS – . Article published in SCA Source..

An excellent source of information on ARSACS published in the GeneReviews – . GeneReviews online database describing specific diseases..

A new measuring stick for ARSACS – Dr. Cynthia Gagnon. Published in the SCA Source..

List of publications on ARSACS from 1979 to January 19, 2019 – . Historical archive list..

Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics – Dr. Benoit Gentil. Published in FASEBJ..

Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada – Dr. Simon Girard. Research published in Genetics in Medicine Open, May 2025..

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

An exploratory natural history of ataxia of Charlevoix-Saguenay – Dr. Cynthia Gagnon. American Academy of Neurology..

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS – Dr. Anne McKinney, Dr. Alanna Watt. Published in The Journal of Physiology..

A research paper looking at the cytoskeleton in cells cultured from ARSACS patients – Dr. Paul Chapple. Published in the Human Molecular Genetics journal..