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.

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, ...

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) ...

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 ...

What is causing this 55-year-old woman to have distorted speech and balance problems when walking, and why have her symptoms worsened progressively since they came on 14 years ago? Those are the ...

The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...

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 ...