Aliases & Classifications for Spinocerebellar Atrophy

MalaCards integrated aliases for Spinocerebellar Atrophy:

Name: Spinocerebellar Atrophy 53 29 6
Ataxia, Spinocerebellar 71

Classifications:



External Ids:

UMLS 71 C0087012

Summaries for Spinocerebellar Atrophy

NINDS : 53 Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant,in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; andautosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

MalaCards based summary : Spinocerebellar Atrophy, also known as ataxia, spinocerebellar, is related to autosomal dominant cerebellar ataxia and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Atrophy is LRRK2 (Leucine Rich Repeat Kinase 2). The drugs TA 0910 and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and testes, and related phenotype is pigmentation.

Related Diseases for Spinocerebellar Atrophy

Diseases related to Spinocerebellar Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.6 POLG LRRK2
2 3-methylglutaconic aciduria, type iii 29.1 POLG LRRK2
3 dystonia 29.1 POLG LRRK2
4 spinocerebellar atrophy with pupillary paralysis 12.2
5 machado-joseph disease 11.8
6 spinocerebellar ataxia 1 11.8
7 spinocerebellar ataxia 2 11.5
8 ataxia and polyneuropathy, adult-onset 10.4
9 neurofibromatosis 10.1
10 alcohol dependence 9.9
11 episodic ataxia, type 2 9.9
12 atrial standstill 1 9.9
13 candidiasis, familial, 1 9.9
14 chiari malformation type i 9.9
15 kuru 9.9
16 macular degeneration, age-related, 1 9.9
17 chorea, childhood-onset, with psychomotor retardation 9.9
18 hereditary ataxia 9.9
19 spastic ataxia 9.9
20 hypertrophic cardiomyopathy 9.9
21 choreatic disease 9.9
22 olivopontocerebellar atrophy 9.9
23 motor neuron disease 9.9
24 sensory peripheral neuropathy 9.9
25 neuromuscular disease 9.9
26 movement disease 9.9
27 retinal degeneration 9.9
28 episodic ataxia 9.9
29 pathologic nystagmus 9.9
30 cerebellar degeneration 9.9
31 cerebello-olivary atrophy 9.9
32 chiari malformation 9.9
33 wallerian degeneration 9.9
34 encephalopathy 9.9
35 spinocerebellar degeneration 9.9
36 tremor 9.9
37 mitochondrial complex i deficiency, nuclear type 1 9.6 POLG LRRK2
38 peripheral nervous system disease 9.5 POLG LRRK2
39 charcot-marie-tooth disease 9.4 POLG LRRK2
40 parkinson disease, late-onset 9.2 POLG LRRK2

Graphical network of the top 20 diseases related to Spinocerebellar Atrophy:



Diseases related to Spinocerebellar Atrophy

Symptoms & Phenotypes for Spinocerebellar Atrophy

UMLS symptoms related to Spinocerebellar Atrophy:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 LRRK2 POLG

Drugs & Therapeutics for Spinocerebellar Atrophy

Drugs for Spinocerebellar Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 TA 0910 Phase 4
2
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
3
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
4
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
5 Antidepressive Agents Phase 2, Phase 3
6 Psychotropic Drugs Phase 2, Phase 3
7 Neurotransmitter Agents Phase 3
8 Excitatory Amino Acid Antagonists Phase 3
9 Neuroprotective Agents Phase 3
10 Anticonvulsants Phase 3
11 Protective Agents Phase 3
12
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
13 Antibodies Phase 2
14 Rho(D) Immune Globulin Phase 2
15 gamma-Globulins Phase 2
16 Immunoglobulins, Intravenous Phase 2
17 Immunoglobulins Phase 2
18 Nicotinic Agonists Phase 2
19 Cholinergic Agents Phase 2
20 Calcium, Dietary Phase 2
21
Calcium Nutraceutical Phase 2 7440-70-2 271
22 Pharmaceutical Solutions Phase 1
23 Immunologic Factors Phase 1
24
tannic acid Approved 1401-55-4
25
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
26
4-Aminopyridine Approved 504-24-5 1727
27
Dopamine Approved 51-61-6, 62-31-7 681
28 Potassium Channel Blockers
29 Dopamine agonists
30 Omega 3 Fatty Acid

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
2 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
3 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
4 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
5 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
6 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo Comparator
7 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
8 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
9 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
10 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
11 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Unknown status NCT03378414 Phase 2
12 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
13 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
14 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
15 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
16 Effect of Nilotinib in Cerebellar Ataxia Patients Active, not recruiting NCT03932669 Phase 2 Nilotinib
17 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Suspended NCT04301284 Phase 2 CAD-1883;Placebos
18 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
19 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
20 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
21 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
22 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
23 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
24 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
25 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
26 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
27 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
28 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
29 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
30 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
31 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
32 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
33 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
34 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
35 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
36 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670
37 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
38 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
39 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
40 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
41 APDM Instrumented Data Exchange for Ataxia (IDEA) Study Recruiting NCT04268147
42 Integrated Functional Evaluation of the Cerebellum Recruiting NCT04288128
43 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Recruiting NCT04153110
44 A Randomised Controlled Trial on the Clinical Efficacy of Oral Trehalose in Patients With Spinocerebellar Ataxia 3: Clinical & FMRI Correlation Recruiting NCT04399265 Early Phase 1
45 Effects of Aerobic Exercise Verse Balance Training on Degenerative Cerebellar Disease Using MRI and Gait Analysis Recruiting NCT03701776
46 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
47 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
48 Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA) Recruiting NCT01060371
49 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
50 Identification of Biomarkers in Spinocerebellar Ataxia 3 Active, not recruiting NCT03885167

Search NIH Clinical Center for Spinocerebellar Atrophy

Genetic Tests for Spinocerebellar Atrophy

Genetic tests related to Spinocerebellar Atrophy:

# Genetic test Affiliating Genes
1 Spinocerebellar Atrophy 29

Anatomical Context for Spinocerebellar Atrophy

MalaCards organs/tissues related to Spinocerebellar Atrophy:

40
Cerebellum, Brain, Testes, Cortex, Eye

Publications for Spinocerebellar Atrophy

Articles related to Spinocerebellar Atrophy:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Induced Pluripotent Stem Cell (iPSC)-Based Neurodegenerative Disease Models for Phenotype Recapitulation and Drug Screening. 61
32344649 2020
2
Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report. 61
32322798 2020
3
Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3. 61
31310802 2019
4
Degenerative and acquired sporadic adult onset ataxia. 61
30927137 2019
5
Glutamate Dehydrogenase as a Neuroprotective Target Against Neurodegeneration. 61
29357018 2019
6
Role of non-coding RNAs in non-aging-related neurological disorders. 61
29898036 2018
7
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. 61
28791574 2018
8
Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. 61
29458882 2018
9
Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models. 61
28624196 2017
10
Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging. 61
28072384 2016
11
Hypertrophic Cardiomyopathy Accompanied by Spinocerebellar Atrophy With a Novel Mutation in Troponin I Gene. 61
27385602 2016
12
Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias. 61
26521073 2016
13
Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23. 61
25144244 2014
14
[Twenty cases of spinocerebellar atrophy treated by multi-needling in rows at occiput]. 61
25112110 2014
15
Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation. 61
23711133 2014
16
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. 61
24218544 2014
17
Branching enzyme deficiency: expanding the clinical spectrum. 61
24248152 2014
18
It may be possible to delay the onset of neurodegenerative diseases with an immunosuppressive drug (rapamycin). 61
23668915 2013
19
FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease. 61
23031666 2012
20
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. 61
20809107 2010
21
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 61
18602318 2009
22
Glycine transporter blockade ameliorates motor ataxia in a mouse model of spinocerebellar atrophy. 61
19270429 2009
23
[RNA pathologies in neurological disorders]. 61
18210802 2007
24
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. 61
16828200 2006
25
Predominant motor symptoms in a 74-year-old man with a small elongation in the spinocerebellar atrophy type 1 gene. 61
16961076 2006
26
TDP1-dependent DNA single-strand break repair and neurodegeneration. 61
16775218 2006
27
Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophy. 61
16327158 2005
28
Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. 61
16087202 2005
29
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). 61
14526178 2003
30
PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons. 61
12051705 2002
31
[Familial hemiplegic migraine]. 61
15775664 2001
32
Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. 61
11710502 2001
33
Behavioral and biochemical effects of L-tryptophan and buspirone in a model of cerebellar atrophy. 61
11509189 2001
34
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. 61
10752579 2000
35
Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease. 61
9771779 1998
36
Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1. 61
9756151 1998
37
Oculomotor testing in the differential diagnosis of degenerative ataxic disorders. 61
9678312 1998
38
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. 61
9535906 1998
39
Phospholipid-metabolizing enzymes in Alzheimer's disease: increased lysophospholipid acyltransferase activity and decreased phospholipase A2 activity. 61
9453575 1998
40
[Presymptomatic DNA diagnosis of spinocerebellar ataxia type 1]. 61
9273319 1997
41
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. 61
9120492 1997
42
Ophthalmologic findings in patients with ataxia. 61
9186105 1997
43
Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia. 61
8549432 1995
44
Infantile-onset spinocerebellar ataxia: MR and CT findings. 61
7484627 1995
45
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. 61
7611728 1995
46
MR findings in adult-onset adrenoleukodystrophy. 61
7677014 1995
47
Autosomal dominant spinocerebellar atrophy with retinal degeneration. 61
7614091 1995
48
[Expansion of triplet repeat and neurodegenerative disorders]. 61
7774118 1994
49
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 61
7951323 1994
50
Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. 61
7689767 1993

Variations for Spinocerebellar Atrophy

ClinVar genetic disease variations for Spinocerebellar Atrophy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)SNV Conflicting interpretations of pathogenicity 39198 rs33949390 12:40713845-40713845 12:40320043-40320043
2 POLG NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys)SNV Conflicting interpretations of pathogenicity 206537 rs201477273 15:89864088-89864088 15:89320857-89320857

Expression for Spinocerebellar Atrophy

Search GEO for disease gene expression data for Spinocerebellar Atrophy.

Pathways for Spinocerebellar Atrophy

GO Terms for Spinocerebellar Atrophy

Cellular components related to Spinocerebellar Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 terminal bouton GO:0043195 8.62 POLG LRRK2

Sources for Spinocerebellar Atrophy

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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