SPAX
MCID: SPS008
MIFTS: 37

Spastic Ataxia (SPAX)

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 59 37 29 55 6 15 72
Ataxia, Spastic 40
Spax 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050952
KEGG 37 H01351
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C1849156
Orphanet 59 ORPHA316226
UMLS 72 C1849156

Summaries for Spastic Ataxia

KEGG : 37
Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Mostly, mutations in the mitochondrial factors cause this disease.

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, testes and spinal cord.

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

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 34.4 SGCG SACS
2 spasticity 30.6 SPG7 SACS
3 aceruloplasminemia 30.5 SACS GBA2 AFG3L2
4 hereditary ataxia 29.9 SPG7 AFG3L2
5 spastic paraparesis 29.6 SPG7 MTPAP
6 vitamin e, familial isolated deficiency of 29.5 SPG7 SACS
7 spastic paraplegia 7, autosomal recessive 29.5 SPG7 SACS AFG3L2
8 autosomal recessive cerebellar ataxia 29.4 SPG7 GBA2
9 spinocerebellar ataxia 28 29.4 SPG7 AFG3L2
10 3-methylglutaconic aciduria, type iii 28.9 SPG7 AFG3L2
11 spastic paraplegia 76, autosomal recessive 28.9 SPG7 KIF1C GBA2
12 hereditary spastic paraplegia 28.6 SPG7 SACS KIF1C GBA2 AFG3L2
13 spastic ataxia 4, autosomal recessive 12.7
14 spastic ataxia 5, autosomal recessive 12.7
15 spastic ataxia 1, autosomal dominant 12.6
16 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.6
17 spastic ataxia 3, autosomal recessive 12.6
18 spastic ataxia 2, autosomal recessive 12.6
19 spastic ataxia 9, autosomal recessive 12.5
20 spastic ataxia 4 12.4
21 spastic ataxia 7, autosomal dominant 12.4
22 spastic ataxia 2 12.4
23 spastic ataxia 3 12.4
24 spastic ataxia 5 12.4
25 spastic ataxia 1 12.4
26 spastic ataxia 7 12.4
27 autosomal recessive spastic ataxia 12.3
28 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
29 spastic ataxia 8 12.1
30 autosomal dominant spastic ataxia 12.1
31 spastic ataxia-dysarthria due to glutaminase deficiency 12.1
32 mousa al din al nassar syndrome 12.0
33 behr syndrome 11.8
34 nkx6-2-related disorder 11.5
35 cerebral amyloid angiopathy, itm2b-related, 1 11.5
36 autosomal dominant cerebellar ataxia 11.4
37 multiple sclerosis 11.4
38 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 11.4
39 pelizaeus-merzbacher-like disease 11.4
40 leukoencephalopathy with vanishing white matter 11.3
41 megalencephalic leukoencephalopathy with subcortical cysts 1 11.3
42 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.3
43 leukoencephalopathy, progressive, with ovarian failure 11.3
44 oliver-mcfarlane syndrome 11.2
45 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 11.2
46 cerebroretinal microangiopathy with calcifications and cysts 1 11.2
47 cerebroretinal microangiopathy with calcifications and cysts 2 11.2
48 leukodystrophy, hypomyelinating, 15 11.2
49 spastic paraplegia 79, autosomal recessive 11.2
50 spasticity, childhood-onset, with hyperglycinemia 11.2

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, muscle spasticity, cerebellar ataxia, ataxia, truncal

Drugs & Therapeutics for Spastic Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-sectional Descriptive Study to Quantify to What Extent Activity Capacity, Performance and Body Composition Predict Day to Day Life Participation in Ambulatory Children With CP. Completed NCT01217242

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, Testes, Spinal Cord, Eye, T Cells, Cerebellum

Publications for Spastic Ataxia

Articles related to Spastic Ataxia:

(show top 50) (show all 303)
# Title Authors PMID Year
1
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 9 38
18398442 2008
2
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 9 38
18484239 2008
3
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. 9 38
17683082 2008
4
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. 9 38
16606928 2006
5
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 9 38
16421146 2006
6
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 9 38
16007637 2005
7
Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction. 9 38
15322280 2004
8
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 9 38
12873855 2003
9
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 9 38
11788093 2001
10
Human genetics: lessons from Quebec populations. 9 38
11701644 2001
11
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 9 38
10655055 2000
12
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. 38
31417125 2019
13
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
14
The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. 38
31271950 2019
15
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. 38
31111429 2019
16
Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration. 38
30989755 2019
17
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. 38
31302745 2019
18
Paclitaxel-Promoted Supramolecular Polymerization of Peptide Conjugates. 38
31251590 2019
19
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. 38
31230722 2019
20
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. 38
29379980 2019
21
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 38
30840144 2019
22
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 38
30638817 2019
23
SYNE1-ataxia: Novel genotypic and phenotypic findings. 38
30573412 2019
24
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
30901567 2019
25
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review. 38
31023339 2019
26
Sacs R272C missense homozygous mice develop an ataxia phenotype. 38
30866998 2019
27
Clinical and molecular studies in two new cases of ARSACS. 38
30680480 2019
28
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. 38
30835349 2019
29
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 38
30548255 2019
30
VPS13D Movement Disorder 38
30789691 2019
31
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 38
30332300 2019
32
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. 38
30515630 2019
33
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins. 38
31413903 2019
34
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? 38
30800049 2019
35
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. 38
30098094 2019
36
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. 38
30636067 2019
37
Revealing Clusters of Connected Pathways Through Multisource Data Integration in Huntington's Disease and Spastic Ataxia. 38
30176611 2019
38
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. 38
30252181 2018
39
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 38
30572172 2018
40
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 38
30323018 2018
41
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene. 38
30384130 2018
42
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 38
30460542 2018
43
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up. 38
30158165 2018
44
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 38
30308956 2018
45
NKX6-2-Related Disorder 38
30285346 2018
46
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 38
29462597 2018
47
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
30231904 2018
48
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 38
29968200 2018
49
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. 38
29928778 2018
50
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay]. 38
30098244 2018

Variations for Spastic Ataxia

ClinVar genetic disease variations for Spastic Ataxia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 INCA1 ; KIF1C NM_006612.6(KIF1C): c.864+1G> A single nucleotide variant Likely pathogenic 17:4907212-4907212 17:5003917-5003917
2 KCNMA1 NM_001014797.3(KCNMA1): c.1361C> A (p.Ala454Asp) single nucleotide variant Uncertain significance rs1057518815 10:78846325-78846325 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 VAMP1 SPG7 SACS MTPAP MARS2 AFG3L2
2 axon cytoplasm GO:1904115 9.16 SPG7 KIF1C
3 m-AAA complex GO:0005745 8.62 SPG7 AFG3L2

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 SPG7 AFG3L2
2 mitochondrial calcium ion transmembrane transport GO:0006851 8.62 SPG7 AFG3L2

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 SPG7 MTPAP MARS2 KIF1C AFG3L2

Sources for 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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