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

Although the combined presence of ataxia and pyramidal features has a long differential, the
presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited …

ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and
polyneuropathy. A plethora of worldwide distributed mutations have been described so far …

Mutations in the SACS gene have been initially reported in a rare autosomal recessive
cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral …

We describe eight subjects from two consanguineous families segregating with autosomal
recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability …

Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited
disorders characterized by degeneration or abnormal development of the cerebellum …

Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is
caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral …

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease caused by mutations in the SACS gene. The first two mutations …

The cerebellum has long been recognized as a fundamental structure in motor coordination.
Structural cerebellar abnormalities and diseases involving the cerebellum are relatively …

BACKGROUND AND PURPOSE: Extension and characteristics of WM involvement other
than the brain stem remain inadequately investigated in ARSACS. The aim of this study was …