MCID: SPS008
MIFTS: 33

Spastic Ataxia

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

Aliases & Classifications for Spastic Ataxia

MalaCards integrated aliases for Spastic Ataxia:

Name: Spastic Ataxia 12 37 29 55 6 15 73
Ataxia, Spastic 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0050952
KEGG 37 H01351
UMLS 73 C1849156

Summaries for Spastic Ataxia

MalaCards based summary : Spastic Ataxia, also known as ataxia, spastic, is related to spastic ataxia, charlevoix-saguenay type and spasticity, and has symptoms including ataxia, cerebellar ataxia and muscle spasticity. An important gene associated with Spastic Ataxia is SACS (Sacsin Molecular Chaperone), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include brain.

Related Diseases for 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 1 Spastic Ataxia 2
Spastic Ataxia 3 Spastic Ataxia 4
Spastic Ataxia 5 Spastic Ataxia 7
Spastic Ataxia 8

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 33.6 SACS SGCG
2 spasticity 31.0 SACS SPG7
3 hereditary ataxia 29.2 AFG3L2 SPG7
4 hereditary spastic paraplegia 28.5 AFG3L2 KIF1C SACS SPG7
5 spastic ataxia 5, autosomal recessive 12.2
6 spastic ataxia 4, autosomal recessive 12.2
7 spastic ataxia 1, autosomal dominant 12.2
8 spastic ataxia 3, autosomal recessive 12.2
9 spastic ataxia 2, autosomal recessive 12.2
10 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.2
11 spastic ataxia 7, autosomal dominant 12.0
12 spastic ataxia 4 11.9
13 spastic ataxia 3 11.9
14 spastic ataxia 1 11.8
15 spastic ataxia 2 11.8
16 spastic ataxia 5 11.8
17 spastic ataxia 7 11.8
18 spastic ataxia 8 11.8
19 mousa al din al nassar syndrome 11.7
20 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.7
21 cerebral amyloid angiopathy, itm2b-related, 1 11.2
22 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.0
23 cerebroretinal microangiopathy with calcifications and cysts 1 10.9
24 cerebroretinal microangiopathy with calcifications and cysts 2 10.9
25 spasticity, childhood-onset, with hyperglycinemia 10.9
26 encephalopathy, progressive, with amyotrophy and optic atrophy 10.9
27 multiple sclerosis 10.8
28 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.8
29 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 10.8
30 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.8
31 multiple sclerosis 3 10.8
32 multiple sclerosis 5 10.8
33 autosomal dominant cerebellar ataxia 10.8
34 glucose transporter type 1 deficiency syndrome 10.8
35 harding ataxia 10.8
36 pelizaeus-merzbacher-like disease 10.8
37 spastic paraplegia 7, autosomal recessive 10.0 AFG3L2 SPG7
38 spastic paraplegia 73, autosomal dominant 10.0 KIF1C SPG7
39 retinitis 10.0
40 spinocerebellar ataxia 28 10.0 AFG3L2 SPG7
41 spastic paraplegia 76, autosomal recessive 10.0 KIF1C SPG7
42 paraplegia 9.9
43 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7
44 alexander disease 9.7
45 macular dystrophy, corneal 9.7
46 friedreich ataxia 1 9.7
47 megalencephaly with dysmyelination 9.7
48 3-methylglutaconic aciduria, type iii 9.7
49 aceruloplasminemia 9.7
50 langerhans cell histiocytosis 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Ataxia

Genetic Tests for Spastic Ataxia

Genetic tests related to Spastic Ataxia:

# Genetic test Affiliating Genes
1 Spastic Ataxia 29

Anatomical Context for Spastic Ataxia

MalaCards organs/tissues related to Spastic Ataxia:

41
Brain

Publications for Spastic Ataxia

Articles related to Spastic Ataxia:

(show top 50) (show all 93)
# Title Authors Year
1
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. ( 29801904 )
2018
2
Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene. ( 29908061 )
2018
3
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 29968200 )
2018
4
A Novel Variant in <i>ABCD1</i> Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390 )
2018
5
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 29538656 )
2018
6
Homozygous<i>CAPN1</i>mutations causing a spastic-ataxia phenotype in 2 families. ( 29379883 )
2018
7
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182 )
2018
8
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. ( 29547997 )
2018
9
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. ( 29610238 )
2018
10
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29462597 )
2018
11
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
12
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
13
Teaching Video Neuro<i>Images</i>: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. ( 28972115 )
2017
14
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997 )
2017
15
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401 )
2017
16
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
17
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. ( 28575651 )
2017
18
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771 )
2017
19
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231 )
2017
20
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
21
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
22
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
23
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721 )
2016
24
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
25
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
26
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
27
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314 )
2015
28
SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group. ( 26231471 )
2015
29
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071 )
2015
30
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
31
Exome sequencing &amp;amp; homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221 )
2015
32
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
33
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641 )
2015
34
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
35
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
36
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. ( 24252062 )
2014
37
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924 )
2014
38
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. ( 22816526 )
2013
39
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. ( 23338241 )
2013
40
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
41
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. ( 23913799 )
2013
42
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23598833 )
2013
43
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23785480 )
2013
44
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. ( 23699708 )
2013
45
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. ( 23497566 )
2013
46
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. ( 22805644 )
2012
47
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. ( 23229046 )
2012
48
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. ( 23229047 )
2012
49
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22307627 )
2012
50
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

Variations for Spastic Ataxia

ClinVar genetic disease variations for Spastic Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNMA1 NM_001161352.1(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 GRCh37 Chromosome 10, 78846325: 78846325
2 KCNMA1 NM_001161352.1(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 GRCh38 Chromosome 10, 77086567: 77086567

Expression for Spastic Ataxia

Search GEO for disease gene expression data for Spastic Ataxia.

Pathways for Spastic Ataxia

Pathways related to Spastic Ataxia according to KEGG:

37
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

GO Terms for Spastic Ataxia

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

# 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:

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

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.02 AFG3L2 KIF1C MARS2 MTPAP SPG7
2 metalloendopeptidase activity GO:0004222 8.96 AFG3L2 SPG7

Sources for Spastic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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