SACS
MCID: SPS150
MIFTS: 57

Spastic Ataxia, Charlevoix-Saguenay Type (SACS)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Spastic Ataxia, Charlevoix-Saguenay Type

MalaCards integrated aliases for Spastic Ataxia, Charlevoix-Saguenay Type:

Name: Spastic Ataxia, Charlevoix-Saguenay Type 57 42 12 71
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 57 24 19 42 58 73 75
Charlevoix-Saguenay Spastic Ataxia 57 11 19 42 28 5 14
Arsacs 57 24 19 42 58 73 53
Spastic Ataxia Charlevoix-Saguenay Type 19 73 43
Spax6 57 58 73
Sacs 57 19 73
Autosomal Recessive Spastic Ataxia Type 6 24 58
Spastic Ataxia 6, Autosomal Recessive 57 73
Spastic Ataxia of Charlevoix-Saguenay 19 42
Ataxia, Spastic, Charlevoix-Saguenay Type 38
Atx/hsp-Sacs 24

Characteristics:


Inheritance:

Spastic Ataxia, Charlevoix-Saguenay Type: Autosomal recessive 57
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Autosomal recessive 58

Prevelance:

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: 6-9/10000 (Specific population) 58

Age Of Onset:

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: adult,elderly 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
later onset has been reported
onset usually in infancy or early childhood
most patients become wheelchair-bound
high prevalence in charlevoix-saguenay region of northeastern quebec
estimated carrier frequency in charlevoix-saguenay region is 1/22


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Ataxia, Charlevoix-Saguenay Type

MedlinePlus Genetics: 42 Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).Additional muscle problems that can occur in ARSACS include muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and difficulty swallowing (dysphagia) and speaking (dysarthria). Other features of ARSACS involve high-arched feet (pes cavus), a spine that curves to the side (scoliosis), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), urinary tract problems, intellectual disability, hearing loss, and recurrent seizures (epilepsy).An unsteady walking style (gait) is the first symptom of ARSACS. Walking problems usually begin between the ages of 12 months and 18 months, as toddlers are learning to walk. These movement problems worsen over time, with increased spasticity and ataxia of the arms and legs. In some cases spasticity goes away, but this apparent improvement is thought to be due to the wasting away (atrophy) of nerves in the arms and legs. Most affected individuals require wheelchair assistance by the time they are in their thirties or forties.While this condition was named after the area in which it was first seen, the Charlevoix-Saguenay region of Quebec, Canada, ARSACS has been identified in individuals worldwide.

MalaCards based summary: Spastic Ataxia, Charlevoix-Saguenay Type, also known as autosomal recessive spastic ataxia of charlevoix-saguenay, is related to neuropathy and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3, and has symptoms including muscle spasticity, urgency of micturition and scanning speech. An important gene associated with Spastic Ataxia, Charlevoix-Saguenay Type is SACS (Sacsin Molecular Chaperone). The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and small intestine, and related phenotypes are dysarthria and mitral valve prolapse

UniProtKB/Swiss-Prot: 73 A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.

OMIM®: 57 Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by Baets et al., 2010). (270550) (Updated 24-Oct-2022)

Disease Ontology: 11 An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has material basis in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.

GARD: 19 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

Orphanet: 58 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

Wikipedia: 75 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative... more...

GeneReviews: NBK1255

Related Diseases for Spastic Ataxia, Charlevoix-Saguenay Type

Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 263)
# Related Disease Score Top Affiliating Genes
1 neuropathy 31.5 SETX SACS APTX
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 31.3 TTPA SACS
3 lichtenstein-knorr syndrome 31.3 TTPA SACS
4 coenzyme q10 deficiency disease 31.3 SACS APTX
5 spastic ataxia 31.3 TTPA SETX SACS APTX
6 mitochondrial complex iii deficiency, nuclear type 2 31.3 TTPA SACS
7 refsum disease, classic 31.2 TTPA SACS
8 marinesco-sjogren syndrome 31.0 TTPA SACS APTX
9 mitochondrial dna depletion syndrome 7 31.0 TTPA SACS APTX
10 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 31.0 TTPA SACS ATCAY
11 spastic paraplegia 7, autosomal recessive 30.9 TTPA SETX SACS
12 hereditary spastic paraplegia 30.9 SETX SACS APTX
13 spinocerebellar ataxia, autosomal recessive 8 30.9 TTPA SETX SACS
14 hereditary ataxia 30.8 TTPA SETX SACS APTX
15 peripheral nervous system disease 30.8 SETX SACS APTX
16 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.6 TTPA SETX SACS APTX
17 autosomal recessive cerebellar ataxia 30.6 TTPA SETX SACS APTX
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 30.5 TTPA SETX SACS APTX
19 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.5 TTPA SETX SACS APTX
20 cerebellar disease 30.5 TTPA SETX SACS APTX
21 ataxia with vitamin e deficiency 30.1 TTPA SETX SACS ATCAY APTX
22 autosomal dominant cerebellar ataxia 29.9 UBE3A TTPA SETX SACS APTX
23 cerebellar ataxia, cayman type 29.6 TTPA ATCAY
24 motor peripheral neuropathy 29.3 SETX APTX
25 episodic ataxia 29.3 TTPA APTX
26 friedreich ataxia 29.1 TTPA SETX APTX
27 dystonia 28.7 TTPA ATCAY APTX
28 pulmonary disease, chronic obstructive 11.3
29 autosomal recessive spastic ataxia 11.2
30 spasticity 11.2
31 pneumonia 11.1
32 tarlov cysts 11.1
33 pneumothorax, primary spontaneous 11.0
34 von hippel-lindau syndrome 11.0
35 arachnoid cysts, intracranial 11.0
36 pulmonary alveolar microlithiasis 11.0
37 cryptogenic organizing pneumonia 11.0
38 interstitial lung disease 11.0
39 hydranencephaly 11.0
40 3-methylglutaconic aciduria, type iii 11.0
41 kearns-sayre syndrome 11.0
42 diffuse large b-cell lymphoma 11.0
43 charcot-marie-tooth disease 10.9
44 progressive myoclonus epilepsy 10.9
45 interstitial lung disease 2 10.8
46 spinal intradural arachnoid cysts 10.8
47 storage pool platelet disease 10.8
48 lung cancer 10.8
49 goodpasture syndrome 10.8
50 alveolar capillary dysplasia with misalignment of pulmonary veins 10.8

Graphical network of the top 20 diseases related to Spastic Ataxia, Charlevoix-Saguenay Type:



Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type

Symptoms & Phenotypes for Spastic Ataxia, Charlevoix-Saguenay Type

Human phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type:

58 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001260
2 mitral valve prolapse 58 30 Frequent (33%) Frequent (79-30%)
HP:0001634
3 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
4 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
5 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
6 cerebellar atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001272
7 cerebellar vermis hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001320
8 unsteady gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002317
9 demyelinating peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007108
10 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
11 lower limb spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002061
12 progressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002073
13 urinary incontinence 58 30 Frequent (33%) Frequent (79-30%)
HP:0000020
14 arachnoid cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0100702
15 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
16 gaze-evoked horizontal nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0007979
17 abnormal motor evoked potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0012896
18 parietal cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0012104
19 hypermyelinated retinal nerve fibers 58 30 Very rare (1%) Frequent (79-30%)
HP:0007922
20 abnormal pons morphology 30 Frequent (33%) HP:0007361
21 abnormal cerebellar peduncle morphology 30 Frequent (33%) HP:0011931
22 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
23 behavioral abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000708
24 gait ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002066
25 impaired vibratory sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002495
26 foot dorsiflexor weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009027
27 intention tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002080
28 distal amyotrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003693
29 absent achilles reflex 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003438
30 impaired tactile sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010830
31 abnormal foot morphology 30 Occasional (7.5%) HP:0001760
32 ataxia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001251
33 impotence 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000802
34 scoliosis 30 Very rare (1%) HP:0002650
35 nystagmus 30 Very rare (1%) HP:0000639
36 pes cavus 30 Very rare (1%) HP:0001761
37 decreased motor nerve conduction velocity 30 Very rare (1%) HP:0003431
38 cerebellar vermis atrophy 30 Very rare (1%) HP:0006855
39 spastic gait 30 Very rare (1%) HP:0002064
40 urinary urgency 30 Very rare (1%) HP:0000012
41 peroneal muscle atrophy 30 Very rare (1%) HP:0009049
42 hyperactive patellar reflex 30 Very rare (1%) HP:0007083
43 intellectual disability 30 HP:0001249
44 spasticity 58 Frequent (79-30%)
45 hyperreflexia 30 HP:0001347
46 abnormal pyramidal sign 58 Frequent (79-30%)
47 muscle weakness 58 Frequent (79-30%)
48 abnormality of the foot 58 Occasional (29-5%)
49 peripheral neuropathy 58 Frequent (79-30%)
50 abnormal cerebellum morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
dysmetria
distal muscle weakness
more
Skeletal Feet:
pes cavus
hammertoes

Skeletal Hands:
swan neck-like deformities of the fingers

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy

Head And Neck Eyes:
nystagmus
impaired smooth pursuit
retinal striation
hypermyelinated retinal fibers

Genitourinary Bladder:
urinary urgency

Neurologic Peripheral Nervous System:
loss of large myelinated fibers
decreased sensory nerve conduction velocities (ncv)
distal sensory loss, especially vibratory sense
decreased motor ncv

Clinical features from OMIM®:

270550 (Updated 24-Oct-2022)

UMLS symptoms related to Spastic Ataxia, Charlevoix-Saguenay Type:


muscle spasticity; urgency of micturition; scanning speech

GenomeRNAi Phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.44 UBE3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.44 UBE3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.44 TTPA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.44 ARHGEF15
5 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.44 ARHGEF15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.44 UBE3A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.44 TTPA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.44 UBE3A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.44 ARHGEF15 TTPA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.44 ARHGEF15 UBE3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.44 ARHGEF15
12 Increased Dengue infection GR00348-A-1 8.65 ATCAY

MGI Mouse Phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 APTX ARHGEF15 ATCAY SACS SETX TTPA
2 behavior/neurological MP:0005386 9.43 APTX ATCAY SACS SETX TTPA UBE3A
3 reproductive system MP:0005389 9.1 ARHGEF15 ATCAY SACS SETX TTPA UBE3A

Drugs & Therapeutics for Spastic Ataxia, Charlevoix-Saguenay Type

Drugs for Spastic Ataxia, Charlevoix-Saguenay Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
2
Tannic acid Approved 1401-55-4 16129878 16129778

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of the ElastiMed's SACS 2.0 - Smart Active Compression Stocking Recruiting NCT04837560 Phase 1
2 Validation of the Simple Acute Coronary Syndrome (SACS) Score and Head-to-Head Comparison of the SACS vs. Modified TIMI vs. HEART ACS Scores Unknown status NCT02358148
3 A Better Trunk and Lower Limb Control for a Better Mobility: Assessment of a Re-entrainment Program in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Completed NCT05479656
4 Safety and Feasibility of the ElastiMed's SACS - Smart Active Compression Stocking Completed NCT03330925
5 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia Active, not recruiting NCT04634032

Search NIH Clinical Center for Spastic Ataxia, Charlevoix-Saguenay Type

Cochrane evidence based reviews: spastic ataxia charlevoix-saguenay type

Genetic Tests for Spastic Ataxia, Charlevoix-Saguenay Type

Genetic tests related to Spastic Ataxia, Charlevoix-Saguenay Type:

# Genetic test Affiliating Genes
1 Charlevoix-Saguenay Spastic Ataxia 28 SACS

Anatomical Context for Spastic Ataxia, Charlevoix-Saguenay Type

Organs/tissues related to Spastic Ataxia, Charlevoix-Saguenay Type:

MalaCards : Retina, Eye, Small Intestine, Pons, Lung, Heart, Cerebellum
ODiseA: Brain

Publications for Spastic Ataxia, Charlevoix-Saguenay Type

Articles related to Spastic Ataxia, Charlevoix-Saguenay Type:

(show top 50) (show all 6994)
# Title Authors PMID Year
1
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 53 62 24 57 5
18465152 2008
2
Identification of a SACS gene missense mutation in ARSACS. 53 62 24 57 5
14718708 2004
3
ARSACS, a spastic ataxia common in northeastern Qu├ębec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 53 62 24 57 5
10655055 2000
4
Mutations in SACS cause atypical and late-onset forms of ARSACS. 62 24 57 5
20876471 2010
5
A phenotype without spasticity in sacsin-related ataxia. 62 24 57 5
15985586 2005
6
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 53 62 57 5
18569450 2008
7
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. 53 62 57 5
14718707 2004
8
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 53 62 57 5
12873855 2003
9
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 62 57 5
27133561 2016
10
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 53 62 24 57
18398442 2008
11
A novel mutation in SACS gene in a family from southern Italy. 62 57 5
14718706 2004
12
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 24 5
30901567 2019
13
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 62 24 5
30638817 2019
14
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 62 24 5
30460542 2018
15
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 24 5
29538656 2018
16
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. 62 24 5
28535259 2017
17
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 24 5
26288984 2015
18
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 62 24 5
23497566 2013
19
Diversity of ARSACS mutations in French-Canadians. 62 24 5
23250129 2013
20
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 62 24 5
22816526 2013
21
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 62 24 5
21507954 2011
22
Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS. 62 24 5
20852969 2011
23
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. 62 24 5
19208651 2009
24
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. 62 24 5
17349660 2007
25
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 24 5
11788093 2001
26
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. 62 24 57
10053011 1999
27
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 24 57
647499 1978
28
A novel SACS gene mutation in a Tunisian family. 53 62 5
19529988 2009
29
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 53 62 5
18484239 2008
30
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. 53 62 5
16606928 2006
31
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings. 62 5
32140197 2020
32
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. 62 5
31429931 2019
33
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. 62 5
28658401 2017
34
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. 62 5
27288452 2016
35
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 5
26530509 2015
36
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 62 5
26068213 2015
37
High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. 62 5
26366743 2015
38
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 62 57
25401298 2015
39
Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. 62 5
24384335 2014
40
Cerebellum and neuropsychiatric disorders: insights from ARSACS. 62 5
24318559 2014
41
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. 62 5
23699708 2013
42
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. 62 5
23043354 2013
43
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 62 5
23280630 2013
44
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. 62 5
22751902 2012
45
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. 62 5
22805644 2012
46
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. 62 5
22287014 2012
47
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 62 5
21597885 2011
48
Is the ataxia of Charlevoix-Saguenay a developmental disease? 62 5
21665375 2011
49
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 62 5
21450511 2011
50
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. 62 5
20798953 2011

Variations for Spastic Ataxia, Charlevoix-Saguenay Type

ClinVar genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

5 (show top 50) (show all 955)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SACS NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) SNV Affects
619025 rs773588375 GRCh37: 13:23906914-23906914
GRCh38: 13:23332775-23332775
2 SACS NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) SNV Pathogenic
623376 rs1566054340 GRCh37: 13:23904561-23904561
GRCh38: 13:23330422-23330422
3 SACS NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) SNV Pathogenic
623395 rs1566069517 GRCh37: 13:23913912-23913912
GRCh38: 13:23339773-23339773
4 SACS NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) SNV Pathogenic
623396 rs1566071225 GRCh37: 13:23914960-23914960
GRCh38: 13:23340821-23340821
5 SACS NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) DEL Pathogenic
559869 rs1555251822 GRCh37: 13:23911674-23911677
GRCh38: 13:23337535-23337538
6 SACS NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) SNV Pathogenic
989007 GRCh37: 13:23906001-23906001
GRCh38: 13:23331862-23331862
7 SACS NM_014363.6(SACS):c.12268C>A (p.His4090Asn) SNV Pathogenic
989008 GRCh37: 13:23905747-23905747
GRCh38: 13:23331608-23331608
8 SACS NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) SNV Pathogenic
989009 GRCh37: 13:23905477-23905477
GRCh38: 13:23331338-23331338
9 SACS NM_014363.6(SACS):c.699del (p.Asp235fs) DEL Pathogenic
989203 rs1415870785 GRCh37: 13:23930052-23930052
GRCh38: 13:23355913-23355913
10 SACS NM_014363.6(SACS):c.914_915del (p.Thr305fs) MICROSAT Pathogenic
989204 GRCh37: 13:23929836-23929837
GRCh38: 13:23355697-23355698
11 SACS NM_014363.6(SACS):c.1358del (p.Gly453fs) DEL Pathogenic
989205 GRCh37: 13:23929393-23929393
GRCh38: 13:23355254-23355254
12 SACS NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) SNV Pathogenic
989206 GRCh37: 13:23913297-23913297
GRCh38: 13:23339158-23339158
13 SACS NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) SNV Pathogenic
989207 GRCh37: 13:23913291-23913291
GRCh38: 13:23339152-23339152
14 SACS NM_014363.6(SACS):c.4835dup (p.Phe1614fs) DUP Pathogenic
989208 GRCh37: 13:23913179-23913180
GRCh38: 13:23339040-23339041
15 SACS NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) SNV Pathogenic
989209 GRCh37: 13:23912254-23912254
GRCh38: 13:23338115-23338115
16 SACS NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) SNV Pathogenic
989210 GRCh37: 13:23911889-23911889
GRCh38: 13:23337750-23337750
17 SACS NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) SNV Pathogenic
989211 GRCh37: 13:23911365-23911365
GRCh38: 13:23337226-23337226
18 SACS NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) SNV Pathogenic
989212 GRCh37: 13:23910741-23910741
GRCh38: 13:23336602-23336602
19 SACS NM_014363.6(SACS):c.8227del (p.His2743fs) DEL Pathogenic
989213 GRCh37: 13:23909788-23909788
GRCh38: 13:23335649-23335649
20 SACS NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) MICROSAT Pathogenic
989214 GRCh37: 13:23907380-23907381
GRCh38: 13:23333241-23333242
21 SACS NM_014363.6(SACS):c.10932dup (p.Leu3645fs) DUP Pathogenic
989215 GRCh37: 13:23907082-23907083
GRCh38: 13:23332943-23332944
22 SACS NM_014363.6(SACS):c.3281dup (p.Asn1094fs) DUP Pathogenic
1098922 GRCh37: 13:23914733-23914734
GRCh38: 13:23340594-23340595
23 SACS NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) SNV Pathogenic
1098923 GRCh37: 13:23908149-23908149
GRCh38: 13:23334010-23334010
24 SACS NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) SNV Pathogenic
1098924 GRCh37: 13:23909883-23909883
GRCh38: 13:23335744-23335744
25 SACS NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) SNV Pathogenic
1323550 GRCh37: 13:23910905-23910905
GRCh38: 13:23336766-23336766
26 SACS NM_014363.6(SACS):c.6837dup (p.Glu2280fs) DUP Pathogenic
1331499 GRCh37: 13:23911177-23911178
GRCh38: 13:23337038-23337039
27 SACS NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) SNV Pathogenic
280094 rs202199411 GRCh37: 13:23908507-23908507
GRCh38: 13:23334368-23334368
28 SACS NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) SNV Pathogenic
370415 rs145766983 GRCh37: 13:23910742-23910742
GRCh38: 13:23336603-23336603
29 SACS NM_014363.6(SACS):c.10644del (p.Phe3548fs) DEL Pathogenic
522626 rs1555250160 GRCh37: 13:23907371-23907371
GRCh38: 13:23333232-23333232
30 SACS NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) SNV Pathogenic
522627 rs1555252345 GRCh37: 13:23913430-23913430
GRCh38: 13:23339291-23339291
31 SACS NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) SNV Pathogenic
522647 rs1360298758 GRCh37: 13:23907202-23907202
GRCh38: 13:23333063-23333063
32 SACS NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) DEL Pathogenic
549687 rs1259615333 GRCh37: 13:23915109-23915112
GRCh38: 13:23340970-23340973
33 SACS NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) SNV Pathogenic
917652 rs755824618 GRCh37: 13:23912872-23912872
GRCh38: 13:23338733-23338733
34 SACS NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) SNV Pathogenic
523854 rs923921184 GRCh37: 13:23929079-23929079
GRCh38: 13:23354940-23354940
35 SACS NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) SNV Pathogenic
556270 rs766711286 GRCh37: 13:23911660-23911660
GRCh38: 13:23337521-23337521
36 SACS NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) DEL Pathogenic
458274 rs773182375 GRCh37: 13:23910809-23910810
GRCh38: 13:23336670-23336671
37 SACS NM_014363.6(SACS):c.3585del (p.Ile1195fs) DEL Pathogenic
5515 GRCh37: 13:23914430-23914430
GRCh38: 13:23340291-23340291
38 SACS NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) DEL Pathogenic
5521 GRCh37: 13:23929557-23929566
GRCh38: 13:23355418-23355427
39 SACS NM_014363.6(SACS):c.2060del (p.Asp687fs) DEL Pathogenic
5522 GRCh37: 13:23928691-23928691
GRCh38: 13:23354552-23354552
40 SACS NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) DEL Pathogenic
928541 rs773754134 GRCh37: 13:23912011-23912015
GRCh38: 13:23337872-23337876
41 SACS NM_014363.6(SACS):c.1919_1920del (p.His640fs) MICROSAT Pathogenic
212111 rs797045937 GRCh37: 13:23928831-23928832
GRCh38: 13:23354692-23354693
42 SACS NM_014363.6(SACS):c.13527dup (p.Glu4510fs) DUP Pathogenic
212110 rs797045936 GRCh37: 13:23904487-23904488
GRCh38: 13:23330348-23330349
43 SACS NM_014363.6(SACS):c.262C>T (p.Arg88Ter) SNV Pathogenic
559870 rs1555255676 GRCh37: 13:23942624-23942624
GRCh38: 13:23368485-23368485
44 SACS NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) SNV Pathogenic
450250 rs867249938 GRCh37: 13:23913783-23913783
GRCh38: 13:23339644-23339644
45 SACS NM_014363.6(SACS):c.470_471del (p.Tyr157fs) DEL Pathogenic
1367088 GRCh37: 13:23932607-23932608
GRCh38: 13:23358468-23358469
46 SACS NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) SNV Pathogenic
5517 rs137853017 GRCh37: 13:23912179-23912179
GRCh38: 13:23338040-23338040
47 SACS NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) SNV Pathogenic
5514 rs137853016 GRCh37: 13:23905795-23905795
GRCh38: 13:23331656-23331656
48 SACS NM_014363.6(SACS):c.4033dup (p.Gln1345fs) DUP Pathogenic
5518 rs606231163 GRCh37: 13:23913981-23913982
GRCh38: 13:23339842-23339843
49 SACS NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) SNV Pathogenic
5519 rs137853018 GRCh37: 13:23908273-23908273
GRCh38: 13:23334134-23334134
50 SACS NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) SNV Pathogenic
5520 rs137853019 GRCh37: 13:23914854-23914854
GRCh38: 13:23340715-23340715

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

73 (show all 24)
# Symbol AA change Variation ID SNP ID
1 SACS p.Asp168Tyr VAR_064801
2 SACS p.Thr201Lys VAR_064802
3 SACS p.Leu308Phe VAR_064803
4 SACS p.Leu556Pro VAR_064804
5 SACS p.Leu802Pro VAR_064805
6 SACS p.Cys991Arg VAR_064806
7 SACS p.Phe1054Ser VAR_064807 rs137853019
8 SACS p.Met1311Lys VAR_064808
9 SACS p.Arg1575Pro VAR_064809
10 SACS p.His1587Arg VAR_064810
11 SACS p.Trp1946Arg VAR_064811 rs137853017
12 SACS p.Arg2703Cys VAR_064813 rs780332615
13 SACS p.Pro2798Gln VAR_064814 rs140551762
14 SACS p.Trp3248Arg VAR_064816 rs137853018
15 SACS p.Leu3481Pro VAR_064817
16 SACS p.Arg3636Gln VAR_064818 rs281865119
17 SACS p.Leu3645Pro VAR_064819
18 SACS p.Pro3652Thr VAR_064820 rs201505036
19 SACS p.Phe3653Ser VAR_064821
20 SACS p.Ala4074Pro VAR_064822 rs137853016
21 SACS p.Arg4331Gln VAR_064823 rs773009784
22 SACS p.Glu4343Lys VAR_064824 rs749383532
23 SACS p.Lys4508Thr VAR_064825
24 SACS p.Asn4549Asp VAR_064826 rs1178912631

Copy number variations for Spastic Ataxia, Charlevoix-Saguenay Type from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 75706 13 23300000 25500000 Deletion SACS Spastic ataxia of charlevoix-saguenay

Expression for Spastic Ataxia, Charlevoix-Saguenay Type

Search GEO for disease gene expression data for Spastic Ataxia, Charlevoix-Saguenay Type.

Pathways for Spastic Ataxia, Charlevoix-Saguenay Type

GO Terms for Spastic Ataxia, Charlevoix-Saguenay Type

Sources for Spastic Ataxia, Charlevoix-Saguenay Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....