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 peripheral nervous system disease and spastic ataxia. An important gene associated with Autosomal Recessive Spastic Ataxia is SACS (Sacsin Molecular Chaperone). Affiliated tissues include testes, brain and 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 peripheral nervous system disease 29.7 SACS DNM1L
2 spastic ataxia 28.8 SGCG SACS KIF1C DNM1L ANKFY1
3 hereditary spastic paraplegia 28.6 SACS KIF1C DNM1L
4 spastic ataxia, charlevoix-saguenay type 12.5
5 spastic ataxia 4, autosomal recessive 12.2
6 spastic ataxia 2, autosomal recessive 12.1
7 spastic ataxia 3, autosomal recessive 12.0
8 spastic ataxia 5, autosomal recessive 11.7
9 spastic ataxia 9, autosomal recessive 11.6
10 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.2
11 cerebellar ataxia, early-onset, with retained tendon reflexes 11.2
12 ataxia and polyneuropathy, adult-onset 11.0
13 spasticity 10.6
14 neuropathy 10.5
15 polyneuropathy 10.3
16 paraplegia 10.3
17 hereditary ataxia 10.2
18 impotence 10.2
19 axonal neuropathy 10.2
20 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
21 3-methylglutaconic aciduria, type iii 10.0
22 scoliosis 10.0
23 charcot-marie-tooth disease 10.0
24 tooth disease 10.0
25 autosomal dominant cerebellar ataxia 10.0
26 cerebral palsy 10.0
27 constipation 10.0
28 cerebellar disease 10.0
29 neuromuscular disease 10.0
30 dystonia 10.0
31 muscular atrophy 10.0
32 primary cerebellar degeneration 10.0
33 pathologic nystagmus 10.0
34 cerebellar degeneration 10.0
35 spastic paraparesis 10.0
36 autonomic dysfunction 10.0
37 cerebral atrophy 10.0
38 dysphagia 10.0
39 rare hereditary ataxia 10.0
40 acquired ataxia 10.0

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
Testes, Brain, Cerebellum

Publications for Autosomal Recessive Spastic Ataxia

Articles related to Autosomal Recessive Spastic Ataxia:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
32548430 2020
2
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings. 61
32140197 2020
3
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
4
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
5
Expanding the clinical and genetic heterogeneity of SPAX5. 61
32237276 2020
6
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
7
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations. 61
32055599 2020
8
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. 61
31534027 2019
9
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. 61
30636067 2019
10
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. 61
31417125 2019
11
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
12
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 61
30840144 2019
13
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 61
30638817 2019
14
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
30901567 2019
15
Sacs R272C missense homozygous mice develop an ataxia phenotype. 61
30866998 2019
16
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 61
30548255 2019
17
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. 61
30835349 2019
18
Clinical and molecular studies in two new cases of ARSACS. 61
30680480 2019
19
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 61
30332300 2019
20
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 61
30460542 2018
21
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene. 61
30384130 2018
22
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up. 61
30158165 2018
23
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
29462597 2018
24
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
30231904 2018
25
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 61
29968200 2018
26
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. 61
29928778 2018
27
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay]. 61
30098244 2018
28
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
29
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
30
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations. 61
29945973 2018
31
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
32
p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss. 61
28527629 2018
33
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. 61
29801904 2018
34
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. 61
30271475 2018
35
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. 61
29610238 2018
36
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
29538656 2018
37
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. 61
29468182 2018
38
Spastic ataxias. 61
29891058 2018
39
Recessive ataxias. 61
29891078 2018
40
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. 61
28419508 2018
41
A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American. 61
30498468 2018
42
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. 61
28843771 2017
43
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. 61
28870592 2017
44
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication. 61
30838287 2017
45
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. 61
28535259 2017
46
Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination. 61
28477695 2017
47
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. 61
28658401 2017
48
Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients. 61
28320127 2017
49
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
29075231 2017
50
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
28658676 2017

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/Likely pathogenic 228394 rs876657721 13:23909472-23909473 13:23335333-23335334

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 8.96 KIF1C DNM1L
2 Rab GTPase binding GO:0017137 8.62 DNM1L ANKFY1

Sources for Autosomal Recessive Spastic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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