present in Gene: SACS
present in Chromosome: 13
Position on Chromosome: 23354906
Alleles of this Variant: C/T
rs1555254256 in
SACS gene and
Dysmorphic features
PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
PMID 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.
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 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
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 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.
PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.
PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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.
rs1555254256 in
SACS gene and
Movement Disorders
PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal 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 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
PMID 8472930 1993 Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
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 27871429 2016 Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.
PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PMID 17846221 2007 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.
PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PMID 22441213 2012 Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.
PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
PMID 17683082 2008 Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.