Aliases & Classifications for Spinocerebellar Atrophy

MalaCards integrated aliases for Spinocerebellar Atrophy:

Name: Spinocerebellar Atrophy 53 6
Ataxia, Spinocerebellar 71


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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 dystonia, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Atrophy is LRRK2 (Leucine Rich Repeat Kinase 2). The drugs Thyrotropin-Releasing Hormone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related phenotype is pigmentation.

Related Diseases for Spinocerebellar Atrophy

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:

# 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Thyrotropin-Releasing Hormone Phase 4
2 Hormone Antagonists Phase 4
3 Nootropic Agents Phase 4
4 Hormones Phase 4
5 TA 0910 Phase 4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
9 Central Nervous System Depressants Phase 2, Phase 3
10 Tranquilizing Agents Phase 2, Phase 3
11 Psychotropic Drugs Phase 2, Phase 3
12 Antimanic Agents Phase 2, Phase 3
13 Antidepressive Agents Phase 2, Phase 3
14 Neurotransmitter Agents Phase 3
15 Anticonvulsants Phase 3
16 Neuroprotective Agents Phase 3
17 Protective Agents Phase 3
18 Excitatory Amino Acid Antagonists Phase 3
19 Excitatory Amino Acids Phase 3
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
22 Immunoglobulin G Phase 2
23 Antibodies Phase 2
24 Immunoglobulins Phase 2
25 Immunologic Factors Phase 2
26 Rho(D) Immune Globulin Phase 2
27 Immunoglobulins, Intravenous Phase 2
28 gamma-Globulins Phase 2
29 Nicotinic Agonists Phase 2
30 Cholinergic Agents Phase 2
31 Calcium, Dietary Phase 2
32 Pharmaceutical Solutions Phase 1
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
4-Aminopyridine Approved 504-24-5 1727
Dopamine Approved 51-61-6, 62-31-7 681
37 Potassium Channel Blockers
38 Dopamine agonists
39 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 46)
# 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 BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;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 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
18 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
19 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
20 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
21 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
22 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
23 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
24 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
25 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
26 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
27 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
28 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
29 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
30 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
31 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
32 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
33 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
34 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670
35 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
36 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
37 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
38 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
39 Identification of Biomarkers in Spinocerebellar Ataxia 3 Recruiting NCT03885167
40 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
41 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Recruiting NCT04153110
42 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
43 Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA) Recruiting NCT01060371
44 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
45 Effects of Aerobic Exercise Verse Balance Training on Degenerative Cerebellar Disease Using MRI and Gait Analysis Not yet recruiting NCT03701776
46 Laryngeal Adaptation for Speech and Swallowing Terminated NCT03770377

Search NIH Clinical Center for Spinocerebellar Atrophy

Genetic Tests for Spinocerebellar Atrophy

Anatomical Context for Spinocerebellar Atrophy

MalaCards organs/tissues related to Spinocerebellar Atrophy:

Brain, Cerebellum, Testes, Cortex, Eye

Publications for Spinocerebellar Atrophy

Articles related to Spinocerebellar Atrophy:

(show top 50) (show all 52)
# Title Authors PMID Year
Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3. 61
31310802 2019
Degenerative and acquired sporadic adult onset ataxia. 61
30927137 2019
Glutamate Dehydrogenase as a Neuroprotective Target Against Neurodegeneration. 61
29357018 2019
Role of non-coding RNAs in non-aging-related neurological disorders. 61
29898036 2018
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. 61
28791574 2018
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
Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models. 61
28624196 2017
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
Hypertrophic Cardiomyopathy Accompanied by Spinocerebellar Atrophy With a Novel Mutation in Troponin I Gene. 61
27385602 2016
Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias. 61
26521073 2016
Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23. 61
25144244 2014
[Twenty cases of spinocerebellar atrophy treated by multi-needling in rows at occiput]. 61
25112110 2014
Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation. 61
23711133 2014
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
Branching enzyme deficiency: expanding the clinical spectrum. 61
24248152 2014
It may be possible to delay the onset of neurodegenerative diseases with an immunosuppressive drug (rapamycin). 61
23668915 2013
FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease. 61
23031666 2012
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. 61
20809107 2010
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 61
18602318 2009
Glycine transporter blockade ameliorates motor ataxia in a mouse model of spinocerebellar atrophy. 61
19270429 2009
[RNA pathologies in neurological disorders]. 61
18210802 2007
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. 61
16828200 2006
Predominant motor symptoms in a 74-year-old man with a small elongation in the spinocerebellar atrophy type 1 gene. 61
16961076 2006
TDP1-dependent DNA single-strand break repair and neurodegeneration. 61
16775218 2006
Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophy. 61
16327158 2005
Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. 61
16087202 2005
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). 61
14526178 2003
PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons. 61
12051705 2002
[Familial hemiplegic migraine]. 61
15775664 2001
Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. 61
11710502 2001
Behavioral and biochemical effects of L-tryptophan and buspirone in a model of cerebellar atrophy. 61
11509189 2001
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. 61
10752579 2000
Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease. 61
9771779 1998
Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1. 61
9756151 1998
Oculomotor testing in the differential diagnosis of degenerative ataxic disorders. 61
9678312 1998
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. 61
9535906 1998
Phospholipid-metabolizing enzymes in Alzheimer's disease: increased lysophospholipid acyltransferase activity and decreased phospholipase A2 activity. 61
9453575 1998
[Presymptomatic DNA diagnosis of spinocerebellar ataxia type 1]. 61
9273319 1997
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. 61
9120492 1997
Ophthalmologic findings in patients with ataxia. 61
9186105 1997
Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia. 61
8549432 1995
Infantile-onset spinocerebellar ataxia: MR and CT findings. 61
7484627 1995
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. 61
7611728 1995
MR findings in adult-onset adrenoleukodystrophy. 61
7677014 1995
Autosomal dominant spinocerebellar atrophy with retinal degeneration. 61
7614091 1995
[Expansion of triplet repeat and neurodegenerative disorders]. 61
7774118 1994
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 61
7951323 1994
Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. 61
7689767 1993
DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. 61
2525613 1989
The human dorsal spinocerebellar tract: myelinated fiber spectrum and fiber density in controls, autosomal dominant spinocerebellar atrophy, Huntington's chorea, radiation myelopathy, and diseases with peripheral sensory nerve involvement. 61
6220851 1982

Variations for Spinocerebellar Atrophy

ClinVar genetic disease variations for Spinocerebellar Atrophy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLG NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)SNV Conflicting interpretations of pathogenicity 206537 rs201477273 15:89864088-89864088 15:89320857-89320857
2 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)SNV Conflicting interpretations of pathogenicity 39198 rs33949390 12:40713845-40713845 12:40320043-40320043

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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