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 ...

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 ...

Corrigendum to "Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3" [Stem Cell Research Vol 40 (2019) 101555]. He L, Ye ...

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 ...