MCID: SPS008
MIFTS: 31

Spastic Ataxia malady

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

Aliases & Classifications for Spastic Ataxia

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Aliases & Descriptions for Spastic Ataxia:

Name: Spastic Ataxia 11 13 25 48 66

Classifications:



External Ids:

Disease Ontology11 DOID:0050952

Summaries for Spastic Ataxia

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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). Affiliated tissues include brain.

Related Diseases for Spastic Ataxia

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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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1spastic ataxia, charlevoix-saguenay type12.2
2spastic ataxia 1, autosomal dominant12.1
3spastic ataxia 3, autosomal recessive12.1
4spastic ataxia 2, autosomal recessive12.1
5spastic ataxia 312.0
6spastic ataxia 111.9
7spastic ataxia 7, autosomal dominant11.9
8spastic ataxia 211.8
9spastic ataxia 511.8
10spastic ataxia 711.8
11spasticity-ataxia-gait anomalies syndrome11.8
12arsacs11.8
13ataxia, spastic, 411.8
14ataxia, spastic, 5, autosomal recessive11.6
15spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia11.4
16dementia, familial british11.1
17mousa al din al nassar syndrome11.0
18ataxia10.7
19spasticity10.7
20retinitis10.0
21leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.0
22cerebroretinal microangiopathy with calcifications and cysts10.0
23paraplegia9.9
24multiple sclerosis, disease progression, modifier of9.8
25multiple sclerosis 39.8
26multiple sclerosis 59.8
27immunodeficiency due to purine nucleoside phosphorylase deficiency9.8
28autosomal dominant cerebellar ataxia9.8
29glucose transporter type 1 deficiency syndrome9.8
30cerebellar ataxia9.8
31friedreich ataxia9.8
32macular corneal dystrophy9.8
33alexander disease9.8
34cataract9.8
35hereditary spastic paraplegia9.8
36autosomal recessive cerebellar ataxia9.8
37myopia9.8
38corneal dystrophy9.8
39langerhans-cell histiocytosis9.8
40histiocytosis9.8
41dystonia9.8
42neuropathy9.8
43diabetes insipidus9.8
44megalencephaly9.8
45atrial fibrillation and stroke9.7AFG3L2, KIF1C, SACS
46spinocerebellar degeneration9.6SACS, SPG7
47hypotrichosis 19.5AFG3L2, SPG7
48human venous malformation9.5AFG3L2, SPG7
49x-linked hereditary ataxia9.2GBA2, SPG7
50spinocerebellar ataxia type 167.0AFG3L2, GBA2, KIF1C, MARS2, MTPAP, SACS

Graphical network of the top 20 diseases related to Spastic Ataxia:



Diseases related to spastic ataxia

Symptoms for Spastic Ataxia

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UMLS symptoms related to Spastic Ataxia:


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

Drugs & Therapeutics for Spastic Ataxia

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Drugs for Spastic Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DeferipronePhase 45630652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
2
IronPhase 410807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3
BaclofenPhase 1951134-47-02284
Synonyms:
( inverted question mark)-Baclofen
(+-)-Baclofen
(+/-)- beta-(Aminoethyl)-4- chlorobenzenepropanoic acid
(+/-)-BACLOFEN
(+/-)-beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
(?)-Baclofen
1134-47-0
4-Amino-3-(4-chlorophenyl)butanoic acid
4-Amino-3-(4-chlorophenyl)butyric acid
62594-36-9
AB00051921
AC-4530
AC1L1DC6
ASTA Medica Brand of Baclofen
AWD, Baclofen
Alphapharm Brand of Baclofen
Apo Baclofen
Apo-Baclofen
ApoBaclofen
Apotex Brand of Baclofen
Ashbourne Brand of Baclofen
Athena Brand of Baclofen
Atrofen
B 5399
B3343
B5399_SIGMA
BPBio1_000012
BPBio1_000750
BRD-A84174873-001-05-2
BRN 2104494
BSPBio_000010
BSPBio_001880
Ba 34647
Ba-34,647
Ba-34647
Ba34,647
Ba34647
Baclofen (JP15/USP/INN)
Baclofen (R,S)
Baclofen AWD
Baclofen Alphapharm Brand
Baclofen Apotex Brand
Baclofen Ashbourne Brand
Baclofen Athena Brand
Baclofen Ciba-Geigy Brand
Baclofen Irex Brand
Baclofen Isis Brand
Baclofen Medtronic Brand
Baclofen Novartis Brand
Baclofen Nu-Pharm Brand
Baclofen Pharmascience Brand
Baclofen [USAN:INN:BAN:JAN]
Baclofene
Baclofene Irex
Baclofene [INN-French]
Baclofene-Irex
BaclofeneIrex
Baclofeno
Baclofeno [INN-Spanish]
Baclofenum
Baclofenum [INN-Latin]
Baclon
Baclophen
Baclospas
Benzenepropanoic acid, beta-(aminomethyl)-4-chloro-(9CI)
Biomol-NT_000251
C 34647Ba
C10H12ClNO2
CCRIS 3722
CHEBI:2972
CHEMBL701
CIBA-34,647-BA
CIBA34,647BA
CID2284
Chlorophenyl GABA
Ciba 34,647-Ba
Ciba Geigy Brand of Baclofen
Ciba-Geigy Brand of Baclofen
Clofen
D001418
D00241
DB00181
DL-4-Amino-3-P-chlorophenylbutanoic acid
DL-4-Amino-3-p-chlorophenylbutanoic acid
DL-Baclofen
 
DivK1c_000001
EINECS 214-486-9
EU-0100163
GABA, Chlorophenyl
Gabalon
Gen Baclofen
Gen-Baclofen
GenBaclofen
Genpharm
HMS1568A12
HMS1920E21
HMS2091M03
HMS500A03
I01-1934
IDI1_000001
Irex Brand of Baclofen
Isis Brand of Baclofen
KBio1_000001
KBio2_000466
KBio2_003034
KBio2_005602
KBio3_001380
KBioGR_000650
KBioSS_000466
Kemstro
Kemstro (TN)
L000002
LS-77134
Lebic
Lioresal
Lioresal (TN)
Lioresal Intrathecal
Lopac0_000163
MLS000028480
Medtronic Brand of Baclofen
MolPort-002-051-370
NCGC00015156-05
NCGC00015156-12
NCGC00023843-03
NCGC00024579-03
NCGC00024579-04
NCGC00024579-05
NCGC00024579-06
NINDS_000001
NSC329137
Novartis Brand of Baclofen
Nu Baclo
Nu Pharm Brand of Baclofen
Nu-Baclo
Nu-Baclofen
Nu-Pharm Brand of Baclofen
NuBaclo
Oprea1_440627
PCP-GABA
PMS Baclofen
PMSBaclofen
Pharmascience Brand of Baclofen
Pms-Baclofen
Prestwick0_000085
Prestwick1_000085
Prestwick2_000085
Prestwick3_000085
Prestwick_85
SMP1_000036
SMR000058294
SPBio_000044
SPBio_001949
SPECTRUM1500135
STK535284
STOCK2S-30552
Spectrum2_000092
Spectrum3_000310
Spectrum4_000245
Spectrum5_000852
Spectrum_000066
UNII-H789N3FKE8
UPCMLD-DP142
UPCMLD-DP142:001
baclofen
beta-(4-Chlorophenyl)gaba
beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
beta-(Aminomethyl)-P-chlorohydrocinnamic acid
beta-(Aminomethyl)-p-chlorohydrocinnamic acid
beta-(P-Chlorophenyl)-gamma-aminobutyric acid
beta-(p-Chlorophenyl)-gamma-aminobutyric acid
gamma-Amino-beta-(P-chlorophenyl)butyric acid
gamma-Amino-beta-(p-chlorophenyl)butyric acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial SiderosisActive, not recruitingNCT01284127Phase 4
2Improving Hand Use in Multiple SclerosisActive, not recruitingNCT01081275Phase 2
3Oral and IV Baclofen in Adult VolunteersCompletedNCT01749319Phase 1
4SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic ParaplegiasRecruitingNCT00140829Phase 1
5Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar DegenerationsActive, not recruitingNCT00136630Phase 1
6Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and EpilepsiesTerminatedNCT00142363Phase 1
7Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
8Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
9Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894

Search NIH Clinical Center for Spastic Ataxia

Genetic Tests for Spastic Ataxia

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Genetic tests related to Spastic Ataxia:

id Genetic test Affiliating Genes
1 Spastic Ataxia25

Anatomical Context for Spastic Ataxia

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MalaCards organs/tissues related to Spastic Ataxia:

34
Brain

Animal Models for Spastic Ataxia or affiliated genes

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Publications for Spastic Ataxia

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Articles related to Spastic Ataxia:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. (27288452)
2016
2
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (26344561)
2015
3
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (26530509)
2015
4
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. (26153042)
2015
5
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. (26142023)
2015
6
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. (26626314)
2015
7
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. (25417924)
2014
8
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. (24252062)
2014
9
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. (25260547)
2014
10
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. (25237835)
2014
11
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
12
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. (23497566)
2013
13
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (23598833)
2013
14
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. (23699708)
2013
15
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. (23338241)
2013
16
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. (23913799)
2013
17
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (23785480)
2013
18
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. (22441213)
2012
19
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. (23229047)
2012
20
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (22209141)
2012
21
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (22892508)
2012
22
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (21507954)
2011
23
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. (22022284)
2011
24
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. (21597885)
2011
25
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (21410841)
2011
26
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. (21745802)
2011
27
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. (21625752)
2011
28
Defective mitochondrial mRNA maturation is associated with spastic ataxia. (20970105)
2010
29
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. (19031088)
2009
30
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. (19451537)
2009
31
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. (18398442)
2008
32
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. (18604465)
2008
33
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. (18484239)
2008
34
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. (18439928)
2008
35
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. (16969684)
2007
36
A novel locus for autosomal recessive spastic ataxia on chromosome 17p. (17273843)
2007
37
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. (16421146)
2006
38
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. (16007637)
2005
39
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. (15156359)
2004
40
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. (11774073)
2002
41
Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. (11809170)
2002
42
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. (11788093)
2001
43
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. (10655055)
2000
44
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. (10610707)
1999
45
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (10053011)
1999
46
Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. (9242412)
1997
47
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (8421971)
1993
48
Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings. (2234324)
1990
49
Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome. (3465874)
1986
50
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (487308)
1979

Variations for Spastic Ataxia

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Expression for genes affiliated with Spastic Ataxia

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Search GEO for disease gene expression data for Spastic Ataxia.

Pathways for genes affiliated with Spastic Ataxia

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GO Terms for genes affiliated with Spastic Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1m-AAA complexGO:00057459.8AFG3L2, SPG7
2mitochondrionGO:00057397.3AFG3L2, MARS2, MTPAP, SACS, SPG7, VAMP1

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:00070059.1AFG3L2, SPG7

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.7AFG3L2, SPG7
2ATP-dependent peptidase activityGO:00041769.7AFG3L2, SPG7
3unfolded protein bindingGO:00510828.8AFG3L2, SPG7
4ATP bindingGO:00055247.7AFG3L2, KIF1C, MARS2, MTPAP, SPG7

Sources for Spastic Ataxia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet