Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Definition:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized by spasticity, ataxia, polyneuropathy, retinal changes, and in some cases late cognitive decline. Patients demonstrate an unsteady gait and experience frequent falls as they learn to walk. ARSACS is caused by mutations in the SACS gene, encoding a large protein sacsin. A recent study demonstrated that sacsin may interact with the Hsp70 chaperone machinery, which is an important component of the cellular response towards aggregation prone mutant proteins that are associated with neurodegenerative diseases.

References:

[1]. Andrew H Crosby, et al. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010 Nov 12;87(5):655-60. [Content Brief]

[2]. José Gazulla, et al. Is the ataxia of Charlevoix-Saguenay a developmental disease?. Med Hypotheses. 2011 Sep;77(3):347-52. [Content Brief]

[3]. Martine Girard, et al. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. [Content Brief]

[4]. Yosr Bouhlal, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. [Content Brief]

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