Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 03-05-2012
Symbol SACS
Location 13q12.12
HGNC id 10519
Name spastic ataxia of Charlevoix-Saguenay
Corresponding gene SACS
Other symbol(s) ARSACS
Main clinical features
  • early-onset neurodevelopmental and degenerative disease associated with atrophy of the upper cerebellar vermis and absence of Purkinje cells
  • characterized by an early onset spastic ataxia, retained tendon reflexes, abolition of sensory and reduced motor nerve conduction, abolition of reflexes, hypermyelinated retinal and peripheral nerve fibers and hypoplasia of the superior cerebellar vermis and absence of Purkinje cells
  • retinal nerve fiber layer hypertrophy (PMID:21850161))
  • Genetic determination autosomal recessive
    Related entries including autosomal recessive ataxia in a Tunisian family
    Function/system disorder neurology
    Type disease
    Gene product
    Name sacsin
  • fibroblasts from SACS patients show a hyperfused mitochondrial network, consistent with defects in mitochondrial fission (PMID: 22307627))
  • Genotype/Phenotype correlations
  • (6543 del A) associated to a unique phenotype characterized by dementia, ophthalmoplegia, and the absence of prominent retinal myelinated fibers
  • N4549D mutation disrupts dimerization and protein folding (PMID: 21507954))