Autosomal recessive spastic ataxia of Charlevoix-Saguenay | |
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Other names | Autosomal recessive spastic ataxia type 6 |
This condition is inherited in an autosomal recessive manner | |
Specialty | Neurology |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that primarily affects people from the Charlevoix and Saguenay–Lac-Saint-Jean regions of Quebec or descendants of native settlers in this region.[1][2] This disorder has also been demonstrated in people from various other countries including India, Turkey, Japan, the Netherlands, Italy, Belgium, Finland, France, and Spain.[3][4] The prevalence has been estimated at 1 in 1,900 in Quebec, but it is very rare elsewhere.[4]
ARSACS is usually diagnosed in early childhood, approximately 12–24 months of age when a child begins to take their first steps. At this time, it manifests as a lack of coordination and balance resulting in frequent falls. Some of the signs and symptoms include:[5]
The inheritance pattern is autosomal recessive. The disorder is caused by mutations in the SACS gene on chromosome 13.[7] It is unclear as to how these mutations affect the central nervous system (CNS) and skeletal muscles presenting in the signs and symptoms of ARSACS.[8]
Most patients begin to use a wheelchair for movement around age 30–40.[9] Death usually occurs in their 60s, but some have been reported to live longer.[4]