Add to ORKGAbnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described among French Canadian patients from Québec presenting with a stereotyp-ical triad of early-onset cerebellar ataxia, spastic paraplegia and peripheral neur-opathy. Two recurring pathogenic muta-tions in the SACS gene were subsequently identified in these families in keeping with a mutational founder event in a geographic-ally isolated population.1 However
We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning dif...
Like all genetic ataxias, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a ra...
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Sagu...
Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder ou...
Background : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurode...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally fou...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial diseas...
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SAC...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmen...
Background: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay ...
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerat...
We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning dif...
Like all genetic ataxias, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a ra...
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Sagu...
Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder ou...
Background : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurode...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally fou...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS; MIM 270550) is characterized...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial diseas...
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SAC...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmen...
Background: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay ...
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerat...
We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning dif...
Like all genetic ataxias, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a ra...
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Sagu...