Interest in neurofilaments has risen sharply in recent years with recognition of their potential
as biomarkers of brain injury or neurodegeneration in CSF and blood. This is in the context …

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a fatal brain disorder
featuring cerebellar neurodegeneration leading to spasticity and ataxia. This disease is …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …

Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous
group of rare, mostly neurodegenerative genetic disorders which usually start in childhood …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset
cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by
mutations in SACS gene encoding sacsin, a huge protein highly expressed in cerebellar …

Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic
ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We …

Reactive oxygen species (ROS) are active molecules involved in several biological
functions. When the production of ROS is not counterbalanced by the action of protective …