MCID: SPS008
MIFTS: 33

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 27 50 13 68

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1spastic ataxia, charlevoix-saguenay type12.2
2spastic ataxia 1, autosomal dominant12.1
3spastic ataxia 2, autosomal recessive12.1
4spastic ataxia 3, autosomal recessive12.1
5spastic ataxia 311.9
6spastic ataxia 511.8
7spastic ataxia 7, autosomal dominant11.8
8spastic ataxia 111.8
9spastic ataxia 211.8
10ataxia, spastic, 411.7
11spastic ataxia 711.7
12spasticity-ataxia-gait anomalies syndrome11.7
13arsacs11.7
14ataxia, spastic, 5, autosomal recessive11.6
15spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia11.5
16dementia, familial british11.0
17leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.9
18mousa al din al nassar syndrome10.9
19cerebroretinal microangiopathy with calcifications and cysts10.8
20multiple sclerosis, disease progression, modifier of10.7
21multiple sclerosis 310.7
22multiple sclerosis 510.7
23autosomal dominant cerebellar ataxia10.7
24glucose transporter type 1 deficiency syndrome10.7
25cerebroretinal microangiopathy with calcifications and cysts 210.7
26ataxia10.6
27spasticity10.6
28retinitis9.9
29cephalic disorders9.9AFG3L2, KIF1C, SACS
30fibrosis of extraocular muscles, congenital, 3a9.9AFG3L2, SPG7
31hydrocephalus9.8AFG3L2, SPG7
32paraplegia9.8
33hypotrichosis 19.8AFG3L2, SPG7
34tremor9.8GBA2, SACS, SPG7
35mental retardation with spastic paraplegia9.7AFG3L2, SACS, SPG7
36spinocerebellar ataxia type 169.7GBA2, SPG7
37cerebellar ataxia9.7
38friedreich ataxia9.7
39macular corneal dystrophy9.7
40alexander disease9.7
41cataract9.7
42hereditary spastic paraplegia9.7
43autosomal recessive cerebellar ataxia9.7
44myopia9.7
45corneal dystrophy9.7
46histiocytosis9.7
47dystonia9.7
48neuropathy9.7
49diabetes insipidus9.7
50megalencephaly9.7

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



Diseases related to spastic ataxia

Symptoms & Phenotypes 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
DeferiproneapprovedPhase 45730652-11-02972
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
IronapprovedPhase 411657439-89-623925
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
3Chelating AgentsPhase 41423
4Iron Chelating AgentsPhase 4226
5
BaclofenapprovedPhase 11011134-47-02284
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 SclerosisUnknown statusNCT01081275Phase 2
3SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic ParaplegiasUnknown statusNCT00140829Phase 1
4Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar DegenerationsUnknown statusNCT00136630Phase 1
5Oral and IV Baclofen in Adult VolunteersCompletedNCT01749319Phase 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 Ataxia27

Anatomical Context for Spastic Ataxia

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MalaCards organs/tissues related to Spastic Ataxia:

36
Brain

Publications for Spastic Ataxia

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Articles related to Spastic Ataxia:

(show top 50)    (show all 70)
idTitleAuthorsYear
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

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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:00057459.9AFG3L2, 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
1mitochondrial calcium ion transportGO:00068519.7AFG3L2, SPG7
2mitochondrion organizationGO:00070059.2AFG3L2, SPG7

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.7AFG3L2, SPG7
2unfolded protein bindingGO:00510829.2AFG3L2, SPG7
3ATP bindingGO:00055248.4AFG3L2, KIF1C, MARS2, MTPAP, SPG7

Sources for Spastic Ataxia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet