SPAX
MCID: SPS008
MIFTS: 40

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 58 36 29 54 6 15 71
Ataxia, Spastic 39
Spax 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050952
KEGG 36 H01351
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1849156
Orphanet 58 ORPHA316226
UMLS 71 C1849156

Summaries for Spastic Ataxia

KEGG : 36 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 spastic ataxia 1, autosomal dominant, 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 spinal cord, eye and brain, and related phenotypes are behavior/neurological and nervous system

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 181)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 35.0 SGCG SACS
2 spastic ataxia 1, autosomal dominant 34.7 VAMP1 SAX1
3 spastic ataxia 3 34.4 MARS2 KIF1C
4 spastic ataxia 1 34.3 VAMP1 SAX1
5 spastic ataxia 5 34.3 SPG7 AFG3L2
6 spastic ataxia 2 34.0 MARS2 KIF1C KIF1A
7 autosomal recessive spastic ataxia 33.7 SGCG SACS KIF1C ANKFY1
8 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 32.3 POLR3A GJC2
9 autosomal dominant cerebellar ataxia 32.3 SPG7 SACS CACNA1A AFG3L2
10 spasticity 31.2 SPG7 SACS KIF1A
11 aceruloplasminemia 30.9 SACS GBA2 CACNA1A AFG3L2
12 spastic paraplegia 7, autosomal recessive 30.7 SPG7 SACS AFG3L2
13 spastic paraparesis 30.4 SPG7 MTPAP KIF1A
14 hypomyelinating leukodystrophy 30.4 POLR3A NKX6-2 GJC2
15 hereditary ataxia 30.2 VAMP1 SPG7 SACS POLR3A CACNA1A AFG3L2
16 cerebellar disease 30.2 SACS CACNA1A AFG3L2
17 spastic paraplegia 54, autosomal recessive 30.2 SPG7 GBA2 DDHD2
18 autosomal recessive cerebellar ataxia 30.2 SPG7 SACS GBA2 CACNA1A
19 spinocerebellar ataxia 28 30.2 SPG7 AFG3L2
20 spastic paraplegia 76, autosomal recessive 30.2 SPG7 KIF1C GBA2
21 paraplegia 30.1 SPG7 KIF1A GJC2 GBA2 DDHD2
22 spastic paraplegia 46, autosomal recessive 29.8 SPG7 KIF1C GBA2 DDHD2
23 hereditary spastic paraplegia 29.3 SPG7 SACS KIF1C KIF1A GJC2 GBA2
24 spastic ataxia 4, autosomal recessive 12.7
25 spastic ataxia 5, autosomal recessive 12.7
26 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.6
27 spastic ataxia 3, autosomal recessive 12.6
28 spastic ataxia 2, autosomal recessive 12.6
29 spastic ataxia 9, autosomal recessive 12.5
30 spastic ataxia 4 12.4
31 spastic ataxia 7, autosomal dominant 12.4
32 spastic ataxia 7 12.4
33 spastic ataxia 8 12.3
34 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.3
35 autosomal dominant spastic ataxia 12.1
36 spastic ataxia-dysarthria due to glutaminase deficiency 12.1
37 behr syndrome 11.9
38 nkx6-2-related disorder 11.5
39 cerebral amyloid angiopathy, itm2b-related, 1 11.5
40 multiple sclerosis 11.4
41 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 11.4
42 pelizaeus-merzbacher-like disease 11.4
43 leukoencephalopathy with vanishing white matter 11.3
44 megalencephalic leukoencephalopathy with subcortical cysts 1 11.3
45 leukoencephalopathy, progressive, with ovarian failure 11.3
46 oliver-mcfarlane syndrome 11.2
47 cerebroretinal microangiopathy with calcifications and cysts 1 11.2
48 cerebroretinal microangiopathy with calcifications and cysts 2 11.2
49 leukodystrophy, hypomyelinating, 15 11.2
50 mitochondrial dna depletion syndrome 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

MGI Mouse Phenotypes related to Spastic Ataxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 AFG3L2 ANKFY1 CACNA1A CHP1 DDHD2 GJC2
2 nervous system MP:0003631 9.36 AFG3L2 ANKFY1 CACNA1A CHP1 DDHD2 GJC2

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:

40
Spinal Cord, Eye, Brain, Testes, Cerebellum, T Cells

Publications for Spastic Ataxia

Articles related to Spastic Ataxia:

(show top 50) (show all 314)
# Title Authors PMID Year
1
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 54 61
18398442 2008
2
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 54 61
18484239 2008
3
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. 54 61
17683082 2008
4
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. 54 61
16606928 2006
5
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 54 61
16421146 2006
6
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 54 61
16007637 2005
7
Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction. 54 61
15322280 2004
8
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 54 61
12873855 2003
9
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 54 61
11788093 2001
10
Human genetics: lessons from Quebec populations. 54 61
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. 54 61
10655055 2000
12
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
13
POLR3A-related spastic ataxia: new mutations and a look into the phenotype. 61
31637490 2020
14
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. 61
31509304 2020
15
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
16
Spastic ataxia associated with colour vision deficiency due to DDHD2 mutations. 61
31532039 2020
17
A VPS13D spastic ataxia mutation disrupts the conserved adaptor binding site in yeast Vps13. 61
31943017 2020
18
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey. 61
31741144 2020
19
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. 61
31876103 2019
20
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 61
30572172 2019
21
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy. 61
31779033 2019
22
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. 61
31302745 2019
23
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. 61
31534027 2019
24
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration. 61
30636067 2019
25
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy. 61
31417125 2019
26
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. 61
30963395 2019
27
Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration. 61
30989755 2019
28
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. 61
31111429 2019
29
The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. 61
31271950 2019
30
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. 61
31230722 2019
31
Paclitaxel-Promoted Supramolecular Polymerization of Peptide Conjugates. 61
31251590 2019
32
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. 61
29379980 2019
33
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 61
30840144 2019
34
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 61
30638817 2019
35
SYNE1-ataxia: Novel genotypic and phenotypic findings. 61
30573412 2019
36
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 61
30901567 2019
37
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review. 61
31023339 2019
38
Sacs R272C missense homozygous mice develop an ataxia phenotype. 61
30866998 2019
39
Clinical and molecular studies in two new cases of ARSACS. 61
30680480 2019
40
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. 61
30835349 2019
41
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 61
30548255 2019
42
VPS13D Movement Disorder 61
30789691 2019
43
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. 61
30515630 2019
44
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 61
30332300 2019
45
Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia. 61
31920481 2019
46
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins. 61
31413903 2019
47
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? 61
30800049 2019
48
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. 61
30098094 2019
49
Revealing Clusters of Connected Pathways Through Multisource Data Integration in Huntington's Disease and Spastic Ataxia. 61
30176611 2019
50
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. 61
30252181 2018

Variations for Spastic Ataxia

ClinVar genetic disease variations for Spastic Ataxia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INCA1 , KIF1C NM_006612.6(KIF1C):c.864+1G>ASNV Likely pathogenic 560374 rs1567721108 17:4907212-4907212 17:5003917-5003917
2 CACNA1A NM_001127221.1(CACNA1A):c.5000G>A (p.Arg1667Gln)SNV Uncertain significance 585575 rs1568447650 19:13346498-13346498 19:13235684-13235684
3 KCNMA1 NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp)SNV Uncertain significance 373984 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:

36
# 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 axon GO:0030424 9.62 SACS KIF1C KIF1A DST
2 microtubule GO:0005874 9.46 TUBB2A KIF1C KIF1A DST
3 presynapse GO:0098793 9.43 VAMP1 KIF1A CACNA1A
4 m-AAA complex GO:0005745 8.96 SPG7 AFG3L2
5 axon cytoplasm GO:1904115 8.92 SPG7 KIF1C KIF1A DST

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial calcium ion transmembrane transport GO:0006851 9.26 SPG7 AFG3L2
2 cytoskeleton-dependent intracellular transport GO:0030705 9.16 KIF1C KIF1A
3 retrograde neuronal dense core vesicle transport GO:1990049 8.96 KIF1C KIF1A
4 anterograde neuronal dense core vesicle transport GO:1990048 8.62 KIF1C KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 KIF1C KIF1A DST CHP1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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