In total, 76 patients with CA (n=28) or HSP (n=48) were included for clinical exome sequencing. The cohort was largely nonconsecutive. Patients with a visiting history from our center were selected ...

Scientists have discovered a new cause of spastic ataxia, and believe this cause is also a trigger for other mitochondrial diseases – neurological disorders that can lead to serious coordination, ...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder primarily caused by mutations in the SACS gene, which encodes the multifunctional protein sacsin.

Researchers have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: Hereditary spastic ataxia. This condition is characterized by lower-limb ...

A research team from the Cell Structure and Dynamics Laboratory of the Biosystems and Integrative Sciences Institute (BioISI) of the Faculty of Sciences of the University of Lisbon (CIÊNCIAS) ...

Artist's rendering of a mitochondrian, the energy-producing cellular structure affected by ARSACS Scientists have pinpointed the cause of a rare, fatal neurodegenerative disorder called ARSACS, or ...

This press release is available in French. Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic ...