MCID: SPS008
MIFTS: 32

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 10 47 12 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050952
UMLS65 C1849156

Summaries for Spastic Ataxia

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MalaCards based summary: Spastic Ataxia is related to ataxia, spastic, 5, autosomal recessive and spastic ataxia, charlevoix-saguenay type, and has symptoms including gait ataxia, ataxia, truncal and dysdiadochokinesis. An important gene associated with Spastic Ataxia is SACS (Sacsin Molecular Chaperone). Affiliated tissues include prostate, endothelial and 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 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
1ataxia, spastic, 5, autosomal recessive31.4AFG3L2, SPG7
2spastic ataxia, charlevoix-saguenay type12.2
3spastic ataxia 1, autosomal dominant12.1
4spastic ataxia 3, autosomal recessive12.1
5spastic ataxia-corneal dystrophy syndrome12.1
6spastic ataxia 2, autosomal recessive12.0
7spastic ataxia 312.0
8early-onset spastic ataxia-neuropathy syndrome11.9
9spastic ataxia 111.9
10spastic ataxia 211.8
11spastic ataxia 511.8
12spastic ataxia 711.8
13spastic ataxia with congenital miosis11.8
14spasticity-ataxia-gait anomalies syndrome11.8
15arsacs11.8
16ataxia, spastic, 411.7
17dementia, familial british11.1
18mousa al din al nassar syndrome11.0
19ataxia10.7
20spasticity10.7
21retinitis10.0
22leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.0
23cerebroretinal microangiopathy with calcifications and cysts10.0
24paraplegia9.9
25multiple sclerosis, disease progression, modifier of9.8
26multiple sclerosis 39.8
27multiple sclerosis 59.8
28immunodeficiency due to purine nucleoside phosphorylase deficiency9.8
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
45spinal cord infarction9.7SACS, SPG7
46ataxias and cerebellar or spinocerebellar degeneration9.7AFG3L2, KIF1C, SACS
47holoprosencephaly9.4AFG3L2, SPG7
48spastic ataxia9.4GBA2, SPG7
49morbid obesity and spermatogenic failure9.3MTPAP, SPG7
50x-linked hereditary ataxia7.1AFG3L2, 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:


gait ataxia, ataxia, truncal, dysdiadochokinesis, muscle spasticity, cerebellar ataxia, 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 45330652-11-02972
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 410217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3Chelating AgentsPhase 4667
4Iron Chelating AgentsPhase 4178
5
BaclofenapprovedPhase 1911134-47-02284
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
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
Gablofen
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
8Genetics 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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Anatomical Context for Spastic Ataxia

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MalaCards organs/tissues related to Spastic Ataxia:

33
Prostate, Endothelial, Brain, Myeloid, T cells, Pituitary, Cardiac myocytes

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 69)
idTitleAuthorsYear
1
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. (26153042)
2015
2
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (26344561)
2015
3
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. (26142023)
2015
4
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. (26626314)
2015
5
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. (25260547)
2014
6
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. (25237835)
2014
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
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
10
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (23785480)
2013
11
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. (23497566)
2013
12
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (23598833)
2013
13
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. (23699708)
2013
14
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. (23338241)
2013
15
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. (22441213)
2012
16
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (22209141)
2012
17
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. (23229047)
2012
18
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (22892508)
2012
19
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. (22805644)
2012
20
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. (22958904)
2012
21
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (22307627)
2012
22
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. (23229046)
2012
23
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. (21625752)
2011
24
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (21507954)
2011
25
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. (22022284)
2011
26
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. (21597885)
2011
27
Defective mitochondrial mRNA maturation is associated with spastic ataxia. (20970105)
2010
28
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. (19031088)
2009
29
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. (19412928)
2009
30
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. (19451537)
2009
31
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. (18484239)
2008
32
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. (18439928)
2008
33
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. (18398442)
2008
34
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. (17683082)
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
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. (14718707)
2004
41
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. (11774073)
2002
42
Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. (11809170)
2002
43
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. (11788093)
2001
44
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. (10655055)
2000
45
Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. (9242412)
1997
46
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (8421971)
1993
47
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
48
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (487308)
1979
49
50

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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Sources for Spastic Ataxia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet