MCID: SPS008
MIFTS: 37

Spastic Ataxia

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

Aliases & Classifications for Spastic Ataxia

MalaCards integrated aliases for Spastic Ataxia:

Name: Spastic Ataxia 12 38 30 56 6 15 74
Ataxia, Spastic 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0050952
KEGG 38 H01351
UMLS 74 C1849156

Summaries for Spastic Ataxia

Disease Ontology : 12 A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.

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, gait ataxia and dysdiadochokinesis. 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, eye and t cells.

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 90)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 34.0 SACS SGCG
2 spasticity 30.2 SACS SPG7
3 hereditary ataxia 29.7 AFG3L2 SPG7
4 3-methylglutaconic aciduria, type iii 29.7 AFG3L2 SPG7
5 spastic paraparesis 29.6 MTPAP SPG7
6 aceruloplasminemia 29.6 AFG3L2 SACS
7 hereditary spastic paraplegia 29.6 AFG3L2 KIF1C SACS SPG7
8 spastic ataxia 4, autosomal recessive 12.4
9 spastic ataxia 5, autosomal recessive 12.4
10 spastic ataxia 1, autosomal dominant 12.4
11 spastic ataxia 3, autosomal recessive 12.4
12 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.4
13 spastic ataxia 2, autosomal recessive 12.4
14 spastic ataxia 4 12.3
15 spastic ataxia 7, autosomal dominant 12.3
16 spastic ataxia 2 12.3
17 spastic ataxia 3 12.3
18 spastic ataxia 1 12.2
19 spastic ataxia 5 12.2
20 spastic ataxia 7 12.2
21 spastic ataxia 8 12.0
22 mousa al din al nassar syndrome 11.9
23 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.8
24 behr syndrome 11.6
25 cerebral amyloid angiopathy, itm2b-related, 1 11.3
26 multiple sclerosis 11.3
27 leukoencephalopathy with vanishing white matter 11.2
28 megalencephalic leukoencephalopathy with subcortical cysts 1 11.2
29 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.2
30 oliver-mcfarlane syndrome 11.1
31 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 11.1
32 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
33 leukoencephalopathy, progressive, with ovarian failure 11.1
34 cerebroretinal microangiopathy with calcifications and cysts 2 11.1
35 leukodystrophy, hypomyelinating, 15 11.1
36 spastic paraplegia 79, autosomal recessive 11.0
37 spasticity, childhood-onset, with hyperglycinemia 11.0
38 encephalopathy, progressive, with amyotrophy and optic atrophy 11.0
39 nkx6-2-related disorder 11.0
40 machado-joseph disease 10.9
41 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.9
42 gaucher disease, type iii 10.9
43 3-methylglutaconic aciduria, type i 10.9
44 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 10.9
45 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.9
46 multiple sclerosis 3 10.9
47 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 10.9
48 multiple sclerosis 5 10.9
49 epilepsy, progressive myoclonic, 10 10.9
50 autosomal dominant cerebellar ataxia 10.9

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

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
2 Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363

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 30

Anatomical Context for Spastic Ataxia

MalaCards organs/tissues related to Spastic Ataxia:

42
Brain, Eye, T Cells

Publications for Spastic Ataxia

Articles related to Spastic Ataxia:

(show top 50) (show all 125)
# Title Authors Year
1
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? ( 30800049 )
2019
2
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 30901567 )
2019
3
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. ( 29801904 )
2018
4
Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene. ( 29908061 )
2018
5
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 29968200 )
2018
6
A Novel Variant in <i>ABCD1</i> Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390 )
2018
7
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 29538656 )
2018
8
Homozygous<i>CAPN1</i>mutations causing a spastic-ataxia phenotype in 2 families. ( 29379883 )
2018
9
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182 )
2018
10
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. ( 29547997 )
2018
11
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. ( 29610238 )
2018
12
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29462597 )
2018
13
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. ( 30012892 )
2018
14
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene. ( 30144656 )
2018
15
Revealing Clusters of Connected Pathways through Multisource Data Integration in Huntington's disease and Spastic Ataxia. ( 30176611 )
2018
16
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. ( 30181935 )
2018
17
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 30231904 )
2018
18
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. ( 30271475 )
2018
19
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. ( 30308956 )
2018
20
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. ( 30572172 )
2018
21
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
22
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
23
Teaching Video Neuro<i>Images</i>: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. ( 28972115 )
2017
24
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997 )
2017
25
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401 )
2017
26
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
27
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. ( 28575651 )
2017
28
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771 )
2017
29
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231 )
2017
30
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication. ( 30838287 )
2017
31
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
32
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
33
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
34
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721 )
2016
35
A 62-Year-Old Woman with Spastic Ataxia and Eye Movement Abnormalities. ( 30363471 )
2016
36
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
37
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
38
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
39
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314 )
2015
40
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071 )
2015
41
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
42
Exome sequencing &amp;amp; homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221 )
2015
43
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
44
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641 )
2015
45
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
46
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
47
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. ( 24252062 )
2014
48
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924 )
2014
49
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. ( 22816526 )
2013
50
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. ( 23338241 )
2013

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
3 INCA1; KIF1C NM_006612.5(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 4907212: 4907212
4 INCA1; KIF1C NM_006612.5(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 5003917: 5003917

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:

38
# 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 axon cytoplasm GO:1904115 9.16 KIF1C SPG7
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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