Autosomal recessive spastic ataxia of Charlevoix-Saguenay

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, France and Spain.[3][4] The prevalence has been estimated at 1 in 1,900 in Quebec, but it is very rare elsewhere.[4]

Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Other namesAutosomal recessive spastic ataxia type 6
This condition is inherited in an autosomal recessive manner
SpecialtyNeurology 

Symptoms and signs

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]

Genetics

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]

Diagnosis

Prognosis

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]

References
  1. Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB (October 1998). "Autosomal recessive spastic ataxia of Charlevoix-Saguenay". Neuromuscular Disorders. 8 (7): 474–9. doi:10.1016/S0960-8966(98)00055-8. PMID 9829277. S2CID 21219526.
  2. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW (February 1978). "Autosomal recessive spastic ataxia of Charlevoix-Saguenay". The Canadian Journal of Neurological Sciences. 5 (1): 61–9. doi:10.1017/S0317167100024793. PMID 647499.
  3. Menon M, Shaji C, Kabeer K, Parvathy G (2016). "SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India". Archives of Medicine and Health Sciences. 4: 122–4. doi:10.4103/2321-4848.183359.
  4. "Autosomal recessive spastic ataxia of Charlevoix Saguenay". www.orpha.net. Retrieved 2017-01-19.
  5. "Muscular Dystrophy Canada:Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)" (PDF). Archived from the original (PDF) on 2011-07-25. Retrieved 2011-05-12.
  6. Vermeer S, van de Warrenburg BP, Kamsteeg EJ, et al. (1993–2020). "ARSACS". In Adam MP, Ardinger HH, Pagon RA, et al. (eds.). GeneReviews. University of Washington, Seattle. PMID 20301432. NBK1255.
  7. "270550 - SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS". omim.org. Retrieved 2017-01-19.
  8. "Genetics Home Reference: SACS". U.S. National Library of Medicine. Retrieved 2011-05-12.
  9. Reference, Genetics Home. "ARSACS". Genetics Home Reference. Retrieved 2017-01-19.
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