ARSACS

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Tang, P. ARSACS. Encyclopedia. Available online: https://encyclopedia.pub/entry/6023 (accessed on 20 September 2026).

Tang P. ARSACS. Encyclopedia. Available at: https://encyclopedia.pub/entry/6023. Accessed September 20, 2026.

Tang, Peter. "ARSACS" Encyclopedia, https://encyclopedia.pub/entry/6023 (accessed September 20, 2026).

Tang, P. (2021, January 04). ARSACS. In Encyclopedia. https://encyclopedia.pub/entry/6023

Tang, Peter. "ARSACS." Encyclopedia. Web. 04 January, 2021.

ARSACS

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).

genetic conditions

References

Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, MathieuJ, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, aspastic ataxia common in northeastern Québec, is caused by mutations in a newgene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5.
Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia ofCharlevoix-Saguenay: upper extremity aptitudes, functional independence andsocial participation. Int J Rehabil Res. 2004 Sep;27(3):253-6.
Gagnon C, Lessard I, Lavoie C, Côté I, St-Gelais R, Mathieu J, Brais B. Anexploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.Neurology. 2018 Oct 2;91(14):e1307-e1311. doi: 10.1212/WNL.0000000000006290.
Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, PalmeriS, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E,Casali C, Santorelli FM. Novel SACS mutations in autosomal recessive spasticataxia of Charlevoix-Saguenay type. Neurology. 2004 Jan 13;62(1):103-6.
Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H,Sakoe K, Nakano I, Takiyama Y. Novel SACS mutation in a Belgian family withsacsin-related ataxia. J Neurol Sci. 2008 Jan 15;264(1-2):73-6.
Richter AM, Ozgul RK, Poisson VC, Topaloglu H. Private SACS mutations inautosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics. 2004 Sep;5(3):165-70.
Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.Neuropathology. 2006 Aug;26(4):368-75.
Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum.2007;6(4):353-9. doi: 10.1080/14734220701230466.
Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus EM, Gagnon C, Horger M, KrummP, Timmann D, Storey E, Schöls L, Synofzik M. Coordination and timing deficits inspeech and swallowing in autosomal recessive spastic ataxia ofCharlevoix-Saguenay (ARSACS). J Neurol. 2018 Sep;265(9):2060-2070. doi:10.1007/s00415-018-8950-4.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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