MCID: ATS438
MIFTS: 23

Autosomal Recessive Spastic Ataxia

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Spastic Ataxia

MalaCards integrated aliases for Autosomal Recessive Spastic Ataxia:

Name: Autosomal Recessive Spastic Ataxia 58 6
Ar-Spax 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA316240

Summaries for Autosomal Recessive Spastic Ataxia

MalaCards based summary : Autosomal Recessive Spastic Ataxia, also known as ar-spax, is related to spastic ataxia and 3-methylglutaconic aciduria, type iii. An important gene associated with Autosomal Recessive Spastic Ataxia is SACS (Sacsin Molecular Chaperone). Affiliated tissues include cerebellum.

Related Diseases for Autosomal Recessive Spastic Ataxia

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive Spastic Ataxia 1
Spastic Ataxia 2 Spastic Ataxia 3
Spastic Ataxia 4 Spastic Ataxia 5
Spastic Ataxia 7 Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia Autosomal Recessive Spastic Ataxia

Diseases related to Autosomal Recessive Spastic Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 29.7 SGCG SACS KIF1C DNM1L ANKFY1
2 3-methylglutaconic aciduria, type iii 29.1 SACS KIF1C DNM1L
3 hereditary spastic paraplegia 29.0 SACS KIF1C DNM1L
4 spastic ataxia, charlevoix-saguenay type 12.0
5 spastic ataxia 4, autosomal recessive 11.8
6 spastic ataxia 3, autosomal recessive 11.6
7 spastic ataxia 5, autosomal recessive 11.2
8 spastic ataxia 2, autosomal recessive 11.1
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.1
10 cerebellar ataxia, early-onset, with retained tendon reflexes 11.1
11 ataxia and polyneuropathy, adult-onset 11.0
12 spasticity 10.7
13 peripheral nervous system disease 10.6
14 neuropathy 10.6
15 polyneuropathy 10.3
16 paraplegia 10.3
17 pathologic nystagmus 10.3
18 hereditary ataxia 10.2
19 impotence 10.2
20 axonal neuropathy 10.2
21 muscular atrophy 10.2
22 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
23 scoliosis 10.1
24 charcot-marie-tooth disease 10.1
25 tooth disease 10.1
26 autosomal dominant cerebellar ataxia 10.1
27 cerebral palsy 10.1
28 constipation 10.1
29 cerebellar disease 10.1
30 neuromuscular disease 10.1
31 dystonia 10.1
32 cerebellar degeneration 10.1
33 spastic paraparesis 10.1
34 autonomic dysfunction 10.1
35 cerebral atrophy 10.1
36 dysphagia 10.1
37 rare hereditary ataxia 10.1
38 acquired ataxia 10.1
39 muscular dystrophy, limb-girdle, autosomal recessive 5 9.9 SGCG SACS
40 spastic paraplegia 4, autosomal dominant 9.5 SACS KIF1C

Graphical network of the top 20 diseases related to Autosomal Recessive Spastic Ataxia:



Diseases related to Autosomal Recessive Spastic Ataxia

Symptoms & Phenotypes for Autosomal Recessive Spastic Ataxia

Drugs & Therapeutics for Autosomal Recessive Spastic Ataxia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Spastic Ataxia

Genetic Tests for Autosomal Recessive Spastic Ataxia

Anatomical Context for Autosomal Recessive Spastic Ataxia

MalaCards organs/tissues related to Autosomal Recessive Spastic Ataxia:

40
Cerebellum

Publications for Autosomal Recessive Spastic Ataxia

Articles related to Autosomal Recessive Spastic Ataxia:

(show top 50) (show all 173)
# Title Authors PMID Year
1
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
33559790 2021
2
Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood. 61
33348119 2021
3
Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study. 61
33307884 2020
4
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
32736199 2020
5
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
32991389 2020
6
Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
32981404 2020
7
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene. 61
32775015 2020
8
Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
32548430 2020
9
SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala. 61
32606540 2020
10
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene. 61
32606552 2020
11
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings. 61
32140197 2020
12
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
13
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature. 61
32368540 2020
14
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 61
33042236 2020
15
Expanding the clinical and genetic heterogeneity of SPAX5. 61
32237276 2020
16
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
17
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations. 61
32055599 2020
18
Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS). 61
32729297 2020
19
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
33414805 2020
20
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology. 61
33584503 2020
21
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. 61
30636067 2019
22
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. 61
31534027 2019
23
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. 61
30963395 2019
24
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. 61
31417125 2019
25
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 61
30840144 2019
26
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
30901567 2019
27
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 61
30638817 2019
28
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 61
30548255 2019
29
Sacs R272C missense homozygous mice develop an ataxia phenotype. 61
30866998 2019
30
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. 61
30835349 2019
31
Clinical and molecular studies in two new cases of ARSACS. 61
30680480 2019
32
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 61
30332300 2019
33
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 61
30460542 2018
34
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene. 61
30384130 2018
35
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up. 61
30158165 2018
36
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
30231904 2018
37
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
29462597 2018
38
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 61
29968200 2018
39
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. 61
29928778 2018
40
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene. 61
30144656 2018
41
Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study. 61
30181935 2018
42
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay]. 61
30098244 2018
43
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations. 61
29945973 2018
44
p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss. 61
28527629 2018
45
WITHDRAWN: Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study. 61
30012892 2018
46
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. 61
30271475 2018
47
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. 61
29801904 2018
48
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. 61
29610238 2018
49
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
29538656 2018
50
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. 61
29468182 2018

Variations for Autosomal Recessive Spastic Ataxia

ClinVar genetic disease variations for Autosomal Recessive Spastic Ataxia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SACS NM_014363.6(SACS):c.7641dup (p.Glu2548fs) Duplication Pathogenic 228393 rs876657720 13:23910373-23910374 13:23336234-23336235
2 SACS NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) Deletion Pathogenic 228394 rs876657721 13:23909472-23909473 13:23335333-23335334
3 SACS NM_014363.6(SACS):c.11100dup (p.Trp3701fs) Duplication Likely pathogenic 929954 13:23906914-23906915 13:23332775-23332776

Expression for Autosomal Recessive Spastic Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Spastic Ataxia.

Pathways for Autosomal Recessive Spastic Ataxia

GO Terms for Autosomal Recessive Spastic Ataxia

Biological processes related to Autosomal Recessive Spastic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 8.96 DNM1L ANKFY1
2 heart contraction GO:0060047 8.62 SGCG DNM1L

Molecular functions related to Autosomal Recessive Spastic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.62 KIF1C DNM1L

Sources for Autosomal Recessive Spastic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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