Variant: rs1057516689 

    present in Gene: SACS
    present in Chromosome: 13
    Position on Chromosome: 23336737
    Alleles of this Variant: T/-

rs1057516689 in SACS gene and Dysmorphic features PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

PMID 20876471 2010 Mutations in SACS cause atypical and late-onset forms of ARSACS.

PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.

PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.