Autosomal recessive spastic ataxia of Charlevoix-Saguenay explained

Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Synonyms:Autosomal recessive spastic ataxia type 6

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.

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]

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.

References

  1. October 1998. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscular Disorders. 8. 7. 474–9. 10.1016/S0960-8966(98)00055-8. 9829277. Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB. 21219526.
  2. February 1978. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. The Canadian Journal of Neurological Sciences. 5. 1. 61–9. 10.1017/S0317167100024793. 647499. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. free.
  3. Shaji. Cvelayudhan. Kabeer. Kabdulkhayar. 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. 10.4103/2321-4848.183359. Menon. Msuraj. vanc. free.
  4. Web site: Autosomal recessive spastic ataxia of Charlevoix Saguenay. www.orpha.net. en. 2017-01-19.
  5. Web site: Muscular Dystrophy Canada:Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). 2011-05-12. dead. https://web.archive.org/web/20110725041933/http://www.muscle.ca/fileadmin/National/Muscular_Dystrophy/Disorders/435E_AR_Spastic_Ataxia_2007.pdf. 2011-07-25.
  6. Book: Vermeer S, van de Warrenburg BP, Kamsteeg EJ, et al . ARSACS . https://www.ncbi.nlm.nih.gov/books/NBK1255/ . Adam MP, Ardinger HH, Pagon RA, et al . GeneReviews . University of Washington, Seattle . 1993–2020 . NBK1255 . 20301432.
  7. Web site: 270550 - SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS. omim.org. en-us. 2017-01-19.
  8. Web site: Genetics Home Reference: SACS. U.S. National Library of Medicine. 2011-05-12.
  9. Web site: ARSACS. Reference. Genetics Home. Genetics Home Reference. en. 2017-01-19.

External links

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