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 ...

Scientists at the UNC School of Medicineand UNC Eshelman School of Pharmacy, in collaboration with a team from Queen Mary University of London, have illuminated the molecular events underlying an ...

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 ...

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 case: A 53-year-old right-handed woman reported 2 years of gait difficulties and progressive clumsiness and weakness of her right upper and lower extremities. She was referred to our neurology ...