par ARSACS | Sep 25, 2025 | Projets de recherche
In ARSACS, the cerebellum, critical for coordination and balance, is one of the most affected brain regions. Within the cerebellum, communication between Purkinje cells and the cerebellar nuclei, which helps integrate signals and execute coordinated movements, begins...
par ARSACS | Sep 25, 2025 | Projets de recherche
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited disease that damages the nervous system and muscles, caused by faults in a protein called sacsin. There is currently no cure, and existing treatments only ease some symptoms. To...
par ARSACS | Sep 25, 2025 | Projets de recherche
Our project aims to accelerate drug discovery for ARSACS by using advanced single nucleus RNA sequencing (snRNAseq) to test 8 therapeutic candidates in the ARSACS mouse model (including ongoing studies led by Drs. Gentil/Durham, and Drs. Lim/Schmahmann). Unlike...
par ARSACS | Sep 25, 2025 | Projets de recherche
Notre projet de recherche vise à mieux comprendre l’ARSACS. Grâce à une analyse approfondie du cerveau d’un patient décédé ayant généreusement consenti au don d’organes à des fins de recherche, nous avons identifié des anomalies similaires à celles observées dans...
par ARSACS | Sep 25, 2025 | Projets de recherche
The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory deficits. With this proposal, we seek to pharmacologically rescue motor- and cognitive...
par ARSACS | Sep 25, 2025 | Projets de recherche
This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse...
par ARSACS | Sep 25, 2025 | Projets de recherche
As many other neurodegenerative diseases, ARSACS is also a matter of inflammation. Recent researches clarified that high levels of Sacsin protein are present in astrocytes and microglia, the cell populations of the brain that act like principal mediators of...
par ARSACS | Sep 25, 2025 | Projets de recherche
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is...
par ARSACS | Sep 25, 2025 | Projets de recherche
A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)...
par ARSACS | Sep 25, 2025 | Projets de recherche
As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and...
par ARSACS | Sep 25, 2025 | Projets de recherche
The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as linear hypointensities in T2-weighted images at the level of the...
par ARSACS | Sep 25, 2025 | Projets de recherche
Loss of sacsin affect neurons in the cerebellum, but the role of other, non-neuronal brain cells in ARSACS has been less studied. The team discovered high amounts of sacsin in the cells that form the blood-brain barrier—a protective layer that keeps harmful substances...
par ARSACS | Sep 25, 2025 | Projets de recherche
Ce projet de recherche vise à découvrir de nouvelles cibles thérapeutiques et des médicaments potentiels pour l’ARSACS en combinant des échantillons sanguins de patients avec la technologie des iPSC (cellules souches pluripotentes induites) et...
