MCID: SPN050
MIFTS: 38

Spinocerebellar Degeneration

Categories: Neuronal diseases

Aliases & Classifications for Spinocerebellar Degeneration

MalaCards integrated aliases for Spinocerebellar Degeneration:

Name: Spinocerebellar Degeneration 53 36 70
Spinocerebellar Tract Degeneration 70
Spinocerebellar Degenerations 54
Ataxia, Spinocerebellar 70

Classifications:



External Ids:

KEGG 36 H01616
UMLS 70 C0037952 C0087012 C1866751

Summaries for Spinocerebellar Degeneration

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 Degeneration, also known as spinocerebellar tract degeneration, is related to spinocerebellar ataxia 2 and dentatorubral-pallidoluysian atrophy, and has symptoms including ataxia, myoclonus and cerebellar ataxia. An important gene associated with Spinocerebellar Degeneration is ATXN1 (Ataxin 1), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Spinocerebellar ataxia. The drugs Nootropic Agents and TA 0910 have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

KEGG : 36 Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria, dysphagia, extrapyramidal sign, pyramidal sign, and autonomic disorder. Spinocerebellar degeneration includes both sporadic and hereditary forms. Most cases of sporadic spinocerebellar degeneration are now considered to be multiple system atrophy (MSA). Hereditary spinocerebellar degeneration includes autosomal dominant types and autosomal recessive types.

Related Diseases for Spinocerebellar Degeneration

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

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 31.8 ATXN3 ATXN2
2 dentatorubral-pallidoluysian atrophy 31.1 ATXN3 ATXN2 ATXN1
3 olivopontocerebellar atrophy 30.5 GLUD1 ATXN2
4 multiple system atrophy 1 30.5 GLUD1 ATXN1
5 machado-joseph disease 30.1 ATXN3 ATXN2 ATXN1
6 spinocerebellar ataxia 1 29.8 ATXN3 ATXN2 ATXN1
7 movement disease 29.7 ATXN3 ATXN2
8 spinocerebellar ataxia 6 29.7 ATXN3 ATXN2 ATXN1
9 choreatic disease 29.5 ATXN3 ATXN2 ATXN1
10 friedreich ataxia 29.5 ATXN3 ATXN2 ATXN1
11 autosomal dominant cerebellar ataxia 29.5 TDP1 ATXN3 ATXN2 ATXN1
12 spinocerebellar ataxia 17 29.3 ATXN3 ATXN2 ATXN1
13 spinocerebellar ataxia 7 29.3 ATXN3 ATXN2 ATXN1
14 amyotrophic lateral sclerosis 1 29.2 ATXN3 ATXN2 ATXN1
15 hereditary ataxia 29.2 TDP1 ATXN3 ATXN2 ATXN1
16 cerebellar disease 28.7 TDP1 ATXN3 ATXN2 ATXN1
17 spinocerebellar degeneration and corneal dystrophy 11.6
18 ataxias and cerebellar or spinocerebellar degeneration 11.4
19 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.2
20 spinocerebellar atrophy 11.1
21 primary cerebellar degeneration 11.1
22 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.0
23 ataxia with vitamin 3 deficiency 11.0
24 behr syndrome 11.0
25 laurence-moon syndrome 11.0
26 spinocerebellar ataxia, x-linked 3 11.0
27 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.0
28 ataxia and polyneuropathy, adult-onset 10.7
29 pathologic nystagmus 10.4
30 cerebellar degeneration 10.4
31 adrenoleukodystrophy 10.3
32 motor neuron disease 10.3
33 adrenomyeloneuropathy 10.3
34 spasticity 10.2
35 3-methylglutaconic aciduria, type iii 10.2
36 parkinsonism 10.2
37 tremor 10.2
38 lateral sclerosis 10.1
39 myopathy 10.1
40 neuropathy 10.1
41 dysphagia 10.1
42 myoclonus 10.1
43 cerebellar ataxia, early-onset, with retained tendon reflexes 10.1
44 supranuclear palsy, progressive, 1 10.1
45 dystonia 10.1
46 peripheral nervous system disease 10.1
47 paraplegia 10.1
48 pure autonomic failure 10.1
49 autonomic dysfunction 10.1
50 encephalopathy 10.1

Comorbidity relations with Spinocerebellar Degeneration via Phenotypic Disease Network (PDN):


Acute Cystitis Cerebral Degeneration

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



Diseases related to Spinocerebellar Degeneration

Symptoms & Phenotypes for Spinocerebellar Degeneration

UMLS symptoms related to Spinocerebellar Degeneration:


ataxia; myoclonus; cerebellar ataxia

GenomeRNAi Phenotypes related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.36 ATXN3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.36 ATXN3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.36 ATXN3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.36 GLUD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.36 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.36 ATXN3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 GLUD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.36 ATXN3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.36 ATXN3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.36 ATXN3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.36 GLUD1

MGI Mouse Phenotypes related to Spinocerebellar Degeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 ATXN1 ATXN2 ATXN3 GLUD1 TDP1

Drugs & Therapeutics for Spinocerebellar Degeneration

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nootropic Agents Phase 4
2 TA 0910 Phase 4
3
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
5
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
6 Excitatory Amino Acid Antagonists Phase 3
7 Neuroprotective Agents Phase 3
8 Protective Agents Phase 3
9 Anticonvulsants Phase 3
10 Neurotransmitter Agents Phase 3
11 Hormones Phase 3
12 Thyrotropin-Releasing Hormone Phase 3
13 Psychotropic Drugs Phase 2, Phase 3
14 Antidepressive Agents Phase 2, Phase 3
15
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
16
Menthol Approved Phase 2 2216-51-5 16666
17 Rho(D) Immune Globulin Phase 2
18 Immunoglobulins Phase 2
19 Immunologic Factors Phase 2
20 gamma-Globulins Phase 2
21 Immunoglobulins, Intravenous Phase 2
22 Antibodies Phase 2
23 Cholinergic Agents Phase 2
24 Nicotinic Agonists Phase 2
25 Calcium, Dietary Phase 2
26
Calcium Nutraceutical Phase 2 7440-70-2 271
27 Pharmaceutical Solutions Phase 1
28
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
29
tannic acid Approved 1401-55-4
30
4-Aminopyridine Approved 504-24-5 1727
31
Dopamine Approved 51-61-6, 62-31-7 681
32 Potassium Channel Blockers
33 Dopamine agonists
34 Omega 3 Fatty Acid

Interventional clinical trials:

(show top 50) (show all 75)
# 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 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
4 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
5 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
6 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
7 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
8 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
9 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
10 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
11 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
12 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;Troriluzole
13 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
14 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
15 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
16 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
17 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
18 A Double-blind, Placebo-controlled, Crossover Study, Followed by Open-label Study of KPS-0373 in Patients With SCD Completed NCT01004016 Phase 2 KPS-0373;Placebo
19 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
20 A Randomized, Double Blind, Placebo-controlled Phase II Study of KPS-0373 in Patients With SCD Completed NCT01384435 Phase 2 KPS-0373;KPS-0373;KPS-0373;KPS-0373;Placebo
21 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
22 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
23 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
24 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
25 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
26 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
27 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
28 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
29 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
30 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630
31 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
32 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
33 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
34 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
35 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
36 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
37 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
38 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
39 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
40 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
41 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
42 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
43 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
44 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
45 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
46 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
47 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
48 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670
49 Effect of Repetitive Transcranial Magnetic Stimulation With Intensive Physical Therapy in Cerebellar Ataxia: A Pilot Study Completed NCT04595578
50 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013

Search NIH Clinical Center for Spinocerebellar Degeneration

Genetic Tests for Spinocerebellar Degeneration

Anatomical Context for Spinocerebellar Degeneration

MalaCards organs/tissues related to Spinocerebellar Degeneration:

40
Cerebellum, Spinal Cord, Eye, Cortex, Liver, Tongue, Retina

Publications for Spinocerebellar Degeneration

Articles related to Spinocerebellar Degeneration:

(show top 50) (show all 619)
# Title Authors PMID Year
1
Decreased protein synthesis of Hsp27 associated with cellular toxicity in a cell model of Machado-Joseph disease. 61 54
19429074 2009
2
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). 54 61
9259274 1997
3
Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. 61 54
9046258 1997
4
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. 54 61
7543989 1995
5
Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration. 61 54
1740378 1992
6
Short-Term Effect of Intensive Speech Therapy on Dysarthria in Patients With Sporadic Spinocerebellar Degeneration. 61
33646821 2021
7
Antisense Oligonucleotide Therapy Targeted Against ATXN3 Improves Potassium Channel-Mediated Purkinje Neuron Dysfunction in Spinocerebellar Ataxia Type 3. 61
32789747 2021
8
Premature saccades: A detailed physiological analysis. 61
33254099 2021
9
Early decrease in intermediate monocytes in peripheral blood is characteristic of multiple system atrophy-cerebellar type. 61
32977251 2020
10
Relationship between tongue pressure and functional oral intake scale diet type in patients with neurological and neuromuscular disorders. 61
32980799 2020
11
Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya. 61
32534077 2020
12
[Deciphering Cortical Cerebellar Atrophy through Molecular Genetics]. 61
32934184 2020
13
Differential effects of thyrotropin releasing hormone (TRH) on motor execution and motor adaptation process in patients with spinocerebellar degeneration. 61
32474221 2020
14
Mediastinal tumor resection in a patient with spinocerebellar degeneration. 61
32727532 2020
15
Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials. 61
31937586 2020
16
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia. 61
31847511 2020
17
Frequency analyses of posturography using logarithmic translation. 61
31709868 2020
18
The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration. 61
30993540 2019
19
The evaluation of gravitational recognition in patients with spinocerebellar degeneration using Listing's plane. 61
31107126 2019
20
Coordination in adults with neurological impairment - A systematic review of uncontrolled manifold studies. 61
30677709 2019
21
Non-clinical pharmacokinetic profiles of rovatirelin, an orally available thyrotropin-releasing hormone analogue. 61
29300135 2019
22
Impaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study. 61
31803128 2019
23
Arterial spin labeling MR imaging for the clinical detection of cerebellar hypoperfusion in patients with spinocerebellar degeneration. 61
30216759 2018
24
Affective improvement of neurological disease patients and caregivers using an automated telephone call service. 61
30031569 2018
25
Effects of gait support in patients with spinocerebellar degeneration by a wearable robot based on synchronization control. 61
30231916 2018
26
An attempt to measure the diametric relationship between slow and quick phases of nystagmus. 61
29355067 2018
27
ISCEV extended protocol for the photopic On-Off ERG. 61
29934802 2018
28
[Cerebellar Ataxia and Autoantibodies]. 61
29632285 2018
29
[Hashimoto's Encephalopathy and Autoantibodies]. 61
29632279 2018
30
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 61
29440566 2018
31
Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia. 61
28612427 2018
32
[A case of chronic progressive neuro-Behçet disease with extensive cerebral atrophy and elevated CSF IL-6 activity treated with infliximab]. 61
29269695 2018
33
Determination of the time course of caloric nystagmus in patients with spinocerebellar degeneration using caloric step stimulus procedure. 61
28949274 2018
34
DAT SPECT may have diagnostic value in prodromal SCA2 patients with parkinsonism. 61
28844804 2017
35
Role of Corticotropin-Releasing Factor in Cerebellar Motor Control and Ataxia. 61
28844644 2017
36
MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2. 61
29422848 2017
37
Effects of age and glucose levels on lactate levels in cerebrospinal fluid examination of neurodegenerative diseases. 61
28566176 2017
38
Evaluation of walking smoothness using wearable robotic system curara® for spinocerebellar degeneration patients. 61
28814031 2017
39
[An Autopsied Case of Familial Spinocerebellar Degeneration Presenting with Late-Onset Autonomic Dysfunction]. 61
28270637 2017
40
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. 61
28677370 2017
41
Transforming growth factor-β1 in the cerebrospinal fluid of patients with distinct neurodegenerative diseases. 61
27756506 2017
42
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. 61
28017249 2017
43
[The Nomenclature and Classification of Sporadic Spinocerebellar Degeneration]. 61
27916755 2016
44
[Spinal Anesthesia for Emergency Cesarean Section in a Spinocerebellar Degeneration Patient]. 61
30351810 2016
45
Intrathecal baclofen pump in spinocerebellar degeneration. 61
27841225 2016
46
Topical Corticosteroid for the Treatment of Hypergranulation Tissue at the Gastrostomy Tube Insertion Site: A Case Study. 61
27668480 2016
47
Spinocerebellar degeneration: Discrepancies between clinical and pathological diagnoses. 61
26556659 2016
48
A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. 61
26968732 2016
49
D-Cycloserine in Neuropsychiatric Diseases: A Systematic Review. 61
26364274 2016
50
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy. 61
27896316 2016

Variations for Spinocerebellar Degeneration

Expression for Spinocerebellar Degeneration

Search GEO for disease gene expression data for Spinocerebellar Degeneration.

Pathways for Spinocerebellar Degeneration

Pathways related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 ATXN3 ATXN2 ATXN1
2 10.95 ATXN3 ATXN2 ATXN1

GO Terms for Spinocerebellar Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 8.96 ATXN3 ATXN1
2 nuclear inclusion body GO:0042405 8.62 ATXN3 ATXN1

Molecular functions related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.62 ATXN2 ATXN1

Sources for Spinocerebellar Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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