MCID: SPS008
MIFTS: 33

Spastic Ataxia malady

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

Aliases & Classifications for Spastic Ataxia

Aliases & Descriptions 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, charlevoix-saguenay type and spastic ataxia 1, autosomal dominant, and has symptoms including ataxia, cerebellar ataxia and muscle spasticity. An important gene associated with Spastic Ataxia is SACS (Sacsin Molecular Chaperone). The drugs Iron 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 Ataxia, Spastic, 4
Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 2, Autosomal Recessive
Ataxia, Spastic, 5, Autosomal Recessive Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 1 Spastic Ataxia 2
Spastic Ataxia 3 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 51)
id Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 12.2
2 spastic ataxia 1, autosomal dominant 12.1
3 spastic ataxia 2, autosomal recessive 12.1
4 spastic ataxia 3, autosomal recessive 12.1
5 spastic ataxia 3 11.9
6 spastic ataxia 5 11.8
7 spastic ataxia 7, autosomal dominant 11.8
8 spastic ataxia 1 11.8
9 spastic ataxia 2 11.8
10 ataxia, spastic, 4 11.7
11 spastic ataxia 7 11.7
12 spasticity-ataxia-gait anomalies syndrome 11.7
13 arsacs 11.7
14 ataxia, spastic, 5, autosomal recessive 11.6
15 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.5
16 dementia, familial british 11.0
17 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.9
18 mousa al din al nassar syndrome 10.9
19 cerebroretinal microangiopathy with calcifications and cysts 10.8
20 multiple sclerosis, disease progression, modifier of 10.7
21 multiple sclerosis 3 10.7
22 glucose transporter type 1 deficiency syndrome 10.7
23 multiple sclerosis 5 10.7
24 cerebroretinal microangiopathy with calcifications and cysts 2 10.7
25 autosomal dominant cerebellar ataxia 10.7
26 ataxia 10.6
27 spasticity 10.6
28 retinitis 9.9
29 cephalic disorders 9.9 AFG3L2 KIF1C SACS
30 fibrosis of extraocular muscles, congenital, 3a 9.9 AFG3L2 SPG7
31 hydrocephalus 9.8 AFG3L2 SPG7
32 paraplegia 9.8
33 hypotrichosis 1 9.8 AFG3L2 SPG7
34 tremor 9.8 GBA2 SACS SPG7
35 mental retardation with spastic paraplegia 9.7 AFG3L2 SACS SPG7
36 spinocerebellar ataxia type 16 9.7 GBA2 SPG7
37 corneal dystrophy 9.7
38 alexander disease 9.7
39 histiocytosis 9.7
40 dystonia 9.7
41 neuropathy 9.7
42 cerebellar ataxia 9.7
43 cataract 9.7
44 diabetes insipidus 9.7
45 hereditary spastic paraplegia 9.7
46 friedreich ataxia 9.7
47 megalencephaly 9.7
48 autosomal recessive cerebellar ataxia 9.7
49 macular corneal dystrophy 9.7
50 myopia 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
Iron Approved Phase 4 7439-89-6 23925
2
Deferiprone Approved Phase 4 30652-11-0 2972
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4
5
Baclofen Approved Phase 1 1134-47-0 2284

Interventional clinical trials:


id Name Status NCT ID Phase
1 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127 Phase 4
2 Improving Hand Use in Multiple Sclerosis Unknown status NCT01081275 Phase 2
3 SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias Unknown status NCT00140829 Phase 1
4 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630 Phase 1
5 Oral and IV Baclofen in Adult Volunteers Completed NCT01749319 Phase 1
6 Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363 Phase 1
7 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 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 70)
id Title Authors Year
1
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
2
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
3
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721 )
2016
4
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
5
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314 )
2015
6
SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group. ( 26231471 )
2015
7
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
8
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
9
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
10
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
11
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071 )
2015
12
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641 )
2015
13
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221 )
2015
14
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
15
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. ( 24252062 )
2014
16
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924 )
2014
17
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
18
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
19
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. ( 23338241 )
2013
20
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23785480 )
2013
21
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
22
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. ( 23913799 )
2013
23
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. ( 22816526 )
2013
24
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23598833 )
2013
25
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. ( 23699708 )
2013
26
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. ( 23497566 )
2013
27
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. ( 23229046 )
2012
28
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. ( 22805644 )
2012
29
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22307627 )
2012
30
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. ( 23229047 )
2012
31
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. ( 22441213 )
2012
32
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. ( 22958904 )
2012
33
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 22209141 )
2012
34
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
35
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22892508 )
2012
36
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. ( 21450511 )
2011
37
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21410841 )
2011
38
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. ( 22022284 )
2011
39
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 21507954 )
2011
40
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21597885 )
2011
41
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. ( 21625752 )
2011
42
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. ( 21745802 )
2011
43
Defective mitochondrial mRNA maturation is associated with spastic ataxia. ( 20970105 )
2010
44
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. ( 19031088 )
2009
45
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 19451537 )
2009
46
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. ( 19412928 )
2009
47
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. ( 18439928 )
2008
48
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. ( 18398442 )
2008
49
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. ( 18604465 )
2008
50
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. ( 17683082 )
2008

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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