MCID: ATS438
MIFTS: 22

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 59
Ar-Spax 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA316240

Summaries for Autosomal Recessive Spastic Ataxia

MalaCards based summary : Autosomal Recessive Spastic Ataxia, also known as ar-spax, is related to spastic ataxia, charlevoix-saguenay type 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 41)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 32.7 SGCG SACS
2 spastic ataxia 29.9 SGCG SACS KIF1C
3 hereditary spastic paraplegia 29.8 SACS KIF1C
4 spastic ataxia 4, autosomal recessive 12.2
5 spastic ataxia 2, autosomal recessive 12.1
6 spastic ataxia 3, autosomal recessive 12.0
7 spastic ataxia 5, autosomal recessive 11.7
8 spastic ataxia 9, autosomal recessive 11.6
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.2
10 harding ataxia 11.2
11 ataxia and polyneuropathy, adult-onset 11.0
12 spasticity 10.6
13 aceruloplasminemia 10.6
14 peripheral nervous system disease 10.5
15 neuropathy 10.5
16 polyneuropathy 10.3
17 paraplegia 10.3
18 hereditary ataxia 10.2
19 impotence 10.2
20 axonal neuropathy 10.2
21 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
22 3-methylglutaconic aciduria, type iii 10.0
23 scoliosis 10.0
24 charcot-marie-tooth disease 10.0
25 tooth disease 10.0
26 autosomal dominant cerebellar ataxia 10.0
27 cerebral palsy 10.0
28 constipation 10.0
29 cerebellar disease 10.0
30 neuromuscular disease 10.0
31 dystonia 10.0
32 muscular atrophy 10.0
33 primary cerebellar degeneration 10.0
34 pathologic nystagmus 10.0
35 cerebellar degeneration 10.0
36 spastic paraparesis 10.0
37 autonomic dysfunction 10.0
38 cerebral atrophy 10.0
39 dysphagia 10.0
40 rare hereditary ataxia 10.0
41 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:

41
Testes, Brain, Cerebellum

Publications for Autosomal Recessive Spastic Ataxia

Articles related to Autosomal Recessive Spastic Ataxia:

(show top 50) (show all 153)
# Title Authors PMID Year
1
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. 38
30963395 2019
2
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. 38
31417125 2019
3
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 38
30638817 2019
4
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 38
30840144 2019
5
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
30901567 2019
6
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. 38
30835349 2019
7
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 38
30548255 2019
8
Sacs R272C missense homozygous mice develop an ataxia phenotype. 38
30866998 2019
9
Clinical and molecular studies in two new cases of ARSACS. 38
30680480 2019
10
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 38
30332300 2019
11
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. 38
30636067 2019
12
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene. 38
30384130 2018
13
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 38
30460542 2018
14
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up. 38
30158165 2018
15
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. 38
29928778 2018
16
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
30231904 2018
17
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 38
29968200 2018
18
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 38
29462597 2018
19
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. 38
30181935 2018
20
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene. 38
30144656 2018
21
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay]. 38
30098244 2018
22
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations. 38
29945973 2018
23
p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss. 38
28527629 2018
24
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. 38
30012892 2018
25
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. 38
29801904 2018
26
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. 38
30271475 2018
27
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. 38
29610238 2018
28
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
29538656 2018
29
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. 38
29468182 2018
30
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. 38
28419508 2018
31
Spastic ataxias. 38
29891058 2018
32
Recessive ataxias. 38
29891078 2018
33
A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American. 38
30498468 2018
34
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. 38
28843771 2017
35
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. 38
28870592 2017
36
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication. 38
30838287 2017
37
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. 38
28535259 2017
38
Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination. 38
28477695 2017
39
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. 38
28658401 2017
40
Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients. 38
28320127 2017
41
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 38
28588446 2017
42
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 38
28658676 2017
43
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 38
29075231 2017
44
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. 38
27980752 2016
45
Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 38
27871429 2016
46
Retinal nerve fiber layer thickening in ARSACS carriers. 38
27772739 2016
47
Progressive myoclonus epilepsy associated with SACS gene mutations. 38
27433545 2016
48
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. 38
27288452 2016
49
Movement disorders in mitochondrial diseases. 38
27476418 2016
50
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 38
27133561 2016

Variations for Autosomal Recessive Spastic Ataxia

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

Cellular components related to Autosomal Recessive Spastic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.02 SGCG SACS KIF1C DNM1L ANKFY1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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