MCID: SPS008
MIFTS: 33

Spastic Ataxia

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

Aliases & Classifications for Spastic Ataxia

MalaCards integrated aliases for Spastic Ataxia:

Name: Spastic Ataxia 12 29 52 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050952

Summaries for Spastic Ataxia

MalaCards based summary : Spastic Ataxia is related to spastic ataxia 5, autosomal recessive and hereditary spastic paraplegia, and has symptoms including ataxia, cerebellar ataxia and muscle spasticity. An important gene associated with Spastic Ataxia is SACS (Sacsin Molecular Chaperone). The drugs Baclofen and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain.

Related Diseases for Spastic Ataxia

Diseases in the Spastic Ataxia family:

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

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

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 spastic ataxia 5, autosomal recessive 32.5 AFG3L2 SPG7
2 hereditary spastic paraplegia 28.8 AFG3L2 SPG7
3 spastic ataxia, charlevoix-saguenay type 12.2
4 spastic ataxia 4, autosomal recessive 12.1
5 spastic ataxia 1, autosomal dominant 12.1
6 spastic ataxia 2, autosomal recessive 12.1
7 spastic ataxia 3, autosomal recessive 12.0
8 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 11.9
9 arsacs 11.9
10 spastic ataxia 3 11.9
11 spastic ataxia 4 11.8
12 spastic ataxia 1 11.8
13 spastic ataxia 2 11.8
14 spastic ataxia 5 11.8
15 spastic ataxia 7, autosomal dominant 11.8
16 spastic ataxia 7 11.7
17 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.5
18 mousa al din al nassar syndrome 11.4
19 dementia, familial british 11.0
20 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.9
21 cerebroretinal microangiopathy with calcifications and cysts 10.8
22 cerebroretinal microangiopathy with calcifications and cysts 2 10.8
23 spasticity, childhood-onset, with hyperglycinemia 10.7
24 glucose transporter type 1 deficiency syndrome 10.7
25 multiple sclerosis 5 10.7
26 harding ataxia 10.7
27 pelizaeus-merzbacher-like disease 10.7
28 multiple sclerosis, disease progression, modifier of 10.7
29 autosomal dominant cerebellar ataxia 10.7
30 multiple sclerosis 3 10.7
31 pcwh syndrome 10.7
32 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.7
33 ataxia 10.6
34 spasticity 10.6
35 retinitis 9.9
36 paraplegia 9.8
37 swallowing disorders 9.7 SACS SPG7
38 macular corneal dystrophy 9.7
39 autosomal recessive cerebellar ataxia 9.7
40 megalencephaly 9.7
41 myopia 9.7
42 alexander disease 9.7
43 cerebellar ataxia 9.7
44 corneal dystrophy 9.7
45 histiocytosis 9.7
46 friedreich ataxia 9.7
47 dystonia 9.7
48 cataract 9.7
49 neuropathy 9.7
50 diabetes insipidus 9.7

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



Diseases related to Spastic Ataxia

Symptoms & Phenotypes for Spastic Ataxia

UMLS symptoms related to Spastic Ataxia:


ataxia, cerebellar ataxia, muscle spasticity, dysdiadochokinesis, ataxia, truncal, gait ataxia

Drugs & Therapeutics for Spastic Ataxia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 1 1134-47-0 2284
2
Deferiprone Approved 30652-11-0 2972
3
Iron Approved 7439-89-6 23925
4 Chelating Agents
5 Iron Chelating Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1
2 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630 Phase 1
3 Oral and IV Baclofen in Adult Volunteers Completed NCT01749319 Phase 1 Oral baclofen;Intervenous baclofen
4 Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363 Phase 1
5 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127
8 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894

Search NIH Clinical Center for Spastic Ataxia

Genetic Tests for Spastic Ataxia

Genetic tests related to Spastic Ataxia:

id Genetic test Affiliating Genes
1 Spastic Ataxia 29

Anatomical Context for Spastic Ataxia

MalaCards organs/tissues related to Spastic Ataxia:

39
Brain

Publications for Spastic Ataxia

Articles related to Spastic Ataxia:

(show top 50) (show all 77)
id Title Authors Year
1
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
2
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
3
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997 )
2017
4
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
5
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. ( 28575651 )
2017
6
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401 )
2017
7
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771 )
2017
8
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721 )
2016
9
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
10
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
11
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. ( 27980752 )
2016
12
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
13
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
14
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
15
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314 )
2015
16
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221 )
2015
17
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071 )
2015
18
SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group. ( 26231471 )
2015
19
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
20
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
21
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641 )
2015
22
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. ( 24252062 )
2014
23
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
24
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924 )
2014
25
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
26
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. ( 23497566 )
2013
27
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23785480 )
2013
28
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23598833 )
2013
29
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099 )
2013
30
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. ( 23699708 )
2013
31
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. ( 23913799 )
2013
32
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. ( 22816526 )
2013
33
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. ( 23338241 )
2013
34
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. ( 23229046 )
2012
35
Progressive neurodegenerative syndrome associated with Langerhans cell histiocytosis: a rare condition that we have to consider in patients with sporadic spastic ataxia and diabetes insipidus. ( 22569568 )
2012
36
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22892508 )
2012
37
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 22209141 )
2012
38
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. ( 22958904 )
2012
39
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. ( 23229047 )
2012
40
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. ( 22441213 )
2012
41
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. ( 22805644 )
2012
42
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22307627 )
2012
43
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. ( 21450511 )
2011
44
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. ( 21625752 )
2011
45
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21410841 )
2011
46
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. ( 22022284 )
2011
47
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. ( 21745802 )
2011
48
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 21507954 )
2011
49
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21597885 )
2011
50
Defective mitochondrial mRNA maturation is associated with spastic ataxia. ( 20970105 )
2010

Variations for Spastic Ataxia

Expression for Spastic Ataxia

Search GEO for disease gene expression data for Spastic Ataxia.

Pathways for Spastic Ataxia

GO Terms for Spastic Ataxia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 AFG3L2 MARS2 MTPAP SACS SPG7 VAMP1
2 m-AAA complex GO:0005745 8.62 AFG3L2 SPG7

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 8.96 AFG3L2 SPG7
2 mitochondrial calcium ion transport GO:0006851 8.62 AFG3L2 SPG7

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

id Name GO ID Score Top Affiliating Genes
1 unfolded protein binding GO:0051082 9.16 AFG3L2 SPG7
2 ATP binding GO:0005524 9.02 AFG3L2 KIF1C MARS2 MTPAP SPG7
3 metalloendopeptidase activity GO:0004222 8.96 AFG3L2 SPG7

Sources for Spastic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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