|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.
|
31417125 |
2019 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
They provide further support that brain imaging and OCT markers might serve as diagnostic biomarkers for ARSACS in patients with novel SACS mutations, applicable even in remote regions of the world to identify and confirm ARSACS disease.
|
30963395 |
2019 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although animal models are still necessary to investigate the role of SACSIN in the pathology of this disease, more reliable human cellular models need to be generated to better understand the cerebellar pathophysiology of ARSACS.
|
30636067 |
2019 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene.
|
30866998 |
2019 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
|
28843771 |
2018 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
|
30144656 |
2018 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced.
|
28535259 |
2017 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis.
|
28658401 |
2017 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
|
28658676 |
2017 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.
|
28641335 |
2017 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
|
28658401 |
2017 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
To further understand cellular consequences of loss of sacsin, we performed microarray analyses in sacsin knockdown cells and ARSACS patient fibroblasts.
|
27288452 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
|
27871429 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature.
|
27133561 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
|
27871429 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comorbidity in the Tunisian population.
|
26010040 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
|
26944128 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature.
|
27133561 |
2016 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
|
26288984 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ARSACS (autosomal-recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropathy.
|
25819952 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that loss of sacsin is associated with oxidative stress and mitochondrial dysfunction, and thus highlight a novel mechanism in the pathogenesis of ARSACS.
|
26530509 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The examples used are parkin and sacsin, two proteins linked respectively to autosomal-recessive early-onset PD and autosomal-recessive spastic ataxia of Charlevoix-Saguenay.
|
26359782 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS [MIM 270550]) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene.
|
25260547 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, we suggest that the observed mitochondrial network anomalies could be used as a trait biomarker for the diagnosis of ARSACS when SACS molecular results are difficult to interpret (ie, missense variants and heterozygous truncating variant).
|
26288984 |
2015 |
|
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
|
26288984 |
2015 |