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 ...

Spastic ataxia is a group of neurodegenerative disorders that rob victims of their abilities to walk and run. Barely able to sit, patients end up bound to wheelchairs. Brain scans reveal defects in a ...

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 ...

Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis, is a term used for a group of inherited diseases that affect the upper motor neurons traveling from the brain through ...