Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

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, ...

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 ...

CHAPEL HILL, NC – Scientists at the UNC School of Medicine and UNC Eshelman School of Pharmacy, in collaboration with a team from Queen Mary University of London, have illuminated the molecular events ...

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) ...

The proband (case 1) was a 74-year-old man with hypertension. His parents were reported not to be consanguineous. His mother and father died at age 42 and 80, respectively, and they were free of ...

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 ...