MCID: SPN050
MIFTS: 45

Spinocerebellar Degeneration

Categories: Neuronal diseases

Aliases & Classifications for Spinocerebellar Degeneration

MalaCards integrated aliases for Spinocerebellar Degeneration:

Name: Spinocerebellar Degeneration 55 38 74
Spinocerebellar Tract Degeneration 74
Spinocerebellar Degenerations 56
Ataxia, Spinocerebellar 74

Classifications:



External Ids:

KEGG 38 H01616

Summaries for Spinocerebellar Degeneration

NINDS : 55 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 primary cerebellar degeneration and aceruloplasminemia, and has symptoms including ataxia, myoclonus and cerebellar ataxia. An important gene associated with Spinocerebellar Degeneration is GCLC (Glutamate-Cysteine Ligase Catalytic Subunit), and among its related pathways/superpathways is Prostaglandin Synthesis and Regulation. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

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 103)
# Related Disease Score Top Affiliating Genes
1 primary cerebellar degeneration 32.3 ATXN1 GLUD1
2 aceruloplasminemia 30.1 ATXN1 POLG TTPA
3 spinocerebellar degeneration and corneal dystrophy 12.5
4 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
5 spinocerebellar ataxia 2 11.5
6 spinocerebellar atrophy 11.2
7 mousa al din al nassar syndrome 11.1
8 dentatorubral-pallidoluysian atrophy 11.1
9 behr syndrome 11.1
10 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.1
11 laurence-moon syndrome 11.1
12 vitamin e, familial isolated deficiency of 11.1
13 spinocerebellar ataxia, x-linked 3 11.1
14 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.1
15 cortical blindness 10.3 ABCD1 POLG
16 adrenoleukodystrophy 10.2
17 adrenomyeloneuropathy 10.2
18 reflex sympathetic dystrophy 10.2 CD36 NPY
19 ataxia and polyneuropathy, adult-onset 10.2
20 hypothalamic disease 10.2 CRH PRL
21 melancholia 10.2 CRH PRL
22 sheehan syndrome 10.2 CRH PRL
23 acth-secreting pituitary adenoma 10.1 CRH PRL
24 hypoadrenocorticism, familial 10.1 ABCD1 CRH
25 multiple system atrophy 1 10.1
26 motor neuron disease 10.1
27 neuropathy 10.1
28 pathologic nystagmus 10.1
29 stereotypic movement disorder 10.1 NPY PRL
30 cluster headache 10.1 NPY PRL
31 premenstrual tension 10.1 CRH PRL
32 hypothyroidism, congenital, nongoitrous, 4 10.1 CRH PRL
33 binswanger's disease 10.1 CRH SST
34 fasting hypoglycemia 10.0 CD36 CRH GLUD1
35 intermittent explosive disorder 10.0 NPY PRL
36 langerhans cell histiocytosis 10.0
37 histiocytosis 10.0
38 ectopic cushing syndrome 10.0 CRH SST
39 postpartum depression 10.0 CRH PRL
40 pituitary infarct 10.0 PRL SST
41 chiasmal syndrome 10.0 PRL SST
42 prolactin producing pituitary tumor 10.0 PRL SST
43 carcinoid syndrome 10.0 NPY SST
44 adrenal gland disease 10.0 CRH SST
45 hyperpituitarism 10.0 PRL SST
46 growth hormone secreting pituitary adenoma 10.0 PRL SST
47 tsh producing pituitary tumor 10.0 PRL SST
48 functioning pituitary adenoma 10.0 PRL SST
49 pituitary adenoma 1, multiple types 9.9 PRL SST
50 fibromyalgia 9.9 CRH NPY PRL

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

MGI Mouse Phenotypes related to Spinocerebellar Degeneration:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ABCD1 ATXN1 CBLN3 CD36 CRH NPY
2 growth/size/body region MP:0005378 9.81 ATXN1 CD36 CRH GCLC GLUD1 NPY
3 endocrine/exocrine gland MP:0005379 9.8 ABCD1 CD36 CRH GLUD1 POLG PRL
4 homeostasis/metabolism MP:0005376 9.77 ABCD1 ATXN1 CBLN3 CD36 CRH GCLC
5 nervous system MP:0003631 9.4 ABCD1 ATXN1 CBLN3 CD36 CRH GCLC

Drugs & Therapeutics for Spinocerebellar Degeneration

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

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Mecasermin Approved, Investigational Phase 4 68562-41-4
5
Citalopram Approved Phase 4 59729-33-8 2771
6
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
7
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
8
Metformin Approved Phase 4 657-24-9 14219 4091
9
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
10
Amantadine Approved Phase 4 768-94-5 2130
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
12 Adrenergic Agonists Phase 4
13 Contraceptive Agents Phase 4
14 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
15 arginine Phase 4
16 Autonomic Agents Phase 4,Phase 3,Early Phase 1,Not Applicable
17 Adrenergic alpha-2 Receptor Agonists Phase 4
18 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
19 Sympatholytics Phase 4
20 Adrenergic alpha-Agonists Phase 4
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
22 Insulin, Globin Zinc Phase 4
23 Estradiol 17 beta-cypionate Phase 4
24 Estradiol 3-benzoate Phase 4
25 insulin Phase 4
26 Adrenergic Agents Phase 4
27 Analgesics Phase 4,Phase 1,Phase 2
28 Antihypertensive Agents Phase 4,Phase 2
29 Mitogens Phase 4
30 Estrogens Phase 4
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
32 Dopamine Uptake Inhibitors Phase 4
33 Muscarinic Antagonists Phase 4
34 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
35 Serotonin Agents Phase 4
36 Serotonin Uptake Inhibitors Phase 4
37 Antidepressive Agents, Second-Generation Phase 4
38 Psychotropic Drugs Phase 4,Phase 2,Phase 3,Phase 1
39 Antiparkinson Agents Phase 4
40 Cholinergic Antagonists Phase 4
41 Cholinergic Agents Phase 4,Phase 2,Phase 3
42 Neurotransmitter Uptake Inhibitors Phase 4
43 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Cytochrome P-450 Enzyme Inhibitors Phase 4
45 Parasympatholytics Phase 4
46 Dopamine Agents Phase 4
47 Hypoglycemic Agents Phase 4,Phase 3
48 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
49 Antiviral Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 140)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
4 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
6 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
7 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
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 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
10 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
11 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
12 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
13 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
14 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
15 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
16 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
17 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
18 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
19 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
20 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
21 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
22 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
23 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Recruiting NCT03347344 Phase 3 Riluzole;Placebo
24 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
25 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
26 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
27 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
28 Riluzole in Patients With Spinocerebellar Ataxia Type 7 Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
29 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
30 Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
31 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
32 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
33 Effect of Nicotinamide in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
34 A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01004016 Phase 2 KPS-0373;Placebo
35 Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT00863538 Phase 2 KPS-0373
36 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
37 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
38 Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2) Completed NCT00998634 Phase 2 LITHIUM CARBONATE
39 A Phase II Double Blind Comparative Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01384435 Phase 2 KPS-0373;KPS-0373;KPS-0373;KPS-0373;Placebo
40 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
41 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
42 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Completed NCT02039206 Phase 2
43 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
44 Open Trail of γIFN for Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
45 Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia Completed NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
46 (+) Epicatechin to Treat Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
47 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
48 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2 gamma interferon
49 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
50 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743

Search NIH Clinical Center for Spinocerebellar Degeneration

Genetic Tests for Spinocerebellar Degeneration

Anatomical Context for Spinocerebellar Degeneration

MalaCards organs/tissues related to Spinocerebellar Degeneration:

42
Pituitary, Brain, Cerebellum, Liver, Eye, Cortex, Testes

Publications for Spinocerebellar Degeneration

Articles related to Spinocerebellar Degeneration:

(show top 50) (show all 155)
# Title Authors Year
1
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. ( 30993540 )
2019
2
The evaluation of gravitational recognition in patients with spinocerebellar degeneration using Listing's plane. ( 31107126 )
2019
3
Determination of the time course of caloric nystagmus in patients with spinocerebellar degeneration using caloric step stimulus procedure. ( 28949274 )
2018
4
Arterial spin labeling MR imaging for the clinical detection of cerebellar hypoperfusion in patients with spinocerebellar degeneration. ( 30216759 )
2018
5
Effects of gait support in patients with spinocerebellar degeneration by a wearable robot based on synchronization control. ( 30231916 )
2018
6
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. ( 28677370 )
2017
7
Evaluation of walking smoothness using wearable robotic system curara® for spinocerebellar degeneration patients. ( 28814031 )
2017
8
Spinocerebellar degeneration: Discrepancies between clinical and pathological diagnoses. ( 26556659 )
2016
9
A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. ( 26968732 )
2016
10
MRI-based cerebellar volume measurements correlate with the International Cooperative Ataxia Rating Scale score in patients with spinocerebellar degeneration or multiple system atrophy. ( 27536377 )
2016
11
Intrathecal baclofen pump in spinocerebellar degeneration. ( 27841225 )
2016
12
"Cerebellar peduncle quarter notes" formed by the superior and middle cerebellar peduncles: comparison with a diffusion tensor study of spinocerebellar degeneration. ( 25749832 )
2015
13
Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration. ( 24781836 )
2014
14
Hashimoto's encephalopathy as a treatable adult-onset cerebellar ataxia mimicking spinocerebellar degeneration. ( 23128836 )
2013
15
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ( 23622410 )
2013
16
Acoustic characteristics of ataxic speech in Japanese patients with spinocerebellar degeneration (SCD). ( 22268904 )
2012
17
Secondary amenorrhea in a woman with spinocerebellar degeneration treated with thyrotropin-releasing hormone: a case report and in vitro analysis. ( 22152284 )
2011
18
Anesthetic management of a patient with spinocerebellar degeneration. ( 21772692 )
2011
19
[An autopsied case of progressive supranuclear palsy, initially diagnosed as spinocerebellar degeneration with severe olivopontocerebellar involvement]. ( 22019867 )
2011
20
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. ( 20809107 )
2010
21
Tract-by-tract morphometric and diffusivity analyses in vivo of spinocerebellar degeneration. ( 19021844 )
2009
22
Evaluation of the effect of thyrotropin releasing hormone (TRH) on regional cerebral blood flow in spinocerebellar degeneration using 3DSRT. ( 19286195 )
2009
23
Cognitive impairment in spinocerebellar degeneration. ( 19295212 )
2009
24
Analysis of subjective evaluations of the functions of tele-coaching intervention in patients with spinocerebellar degeneration. ( 18525137 )
2008
25
Effect of coaching on psychological adjustment in patients with spinocerebellar degeneration: a pilot study. ( 17984151 )
2007
26
Adrenoleukodystrophy manifesting as spinocerebellar degeneration. ( 16804268 )
2006
27
Catatonic stupor superimposed on hereditary spinocerebellar degeneration resolved with electroconvulsive therapy. ( 16764981 )
2006
28
Longitudinal study of bone and calcium metabolism and fracture incidence in spinocerebellar degeneration. ( 17035703 )
2006
29
Influence of repetitive transcranial magnetic stimulation on disease severity and oxidative stress markers in the cerebrospinal fluid of patients with spinocerebellar degeneration. ( 15845214 )
2005
30
Thalamic stimulation for disabling tremor in a patient with spinocerebellar degeneration. ( 16155369 )
2005
31
Peripheral nerve pathology in two rottweilers with neuronal vacuolation and spinocerebellar degeneration. ( 16301586 )
2005
32
Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells. ( 15573948 )
2004
33
D-cycloserine for the treatment of ataxia in spinocerebellar degeneration. ( 12736088 )
2003
34
Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia. ( 12788952 )
2003
35
Spinocerebellar degeneration. ( 14521474 )
2003
36
Nystagmus-sensation dissociation in spinocerebellar degeneration. ( 14606594 )
2003
37
[A quantitative evaluation of spinocerebellar degeneration by an acoustic analysis--the effect of taltirelin hydrate on patients with Machado-Joseph disease]. ( 12884823 )
2003
38
Transcranial magnetic stimulation alleviates truncal ataxia in spinocerebellar degeneration. ( 11784843 )
2002
39
Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. ( 11897246 )
2002
40
Ambulatory blood pressure monitoring in patients with spinocerebellar degeneration. ( 12225317 )
2002
41
Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration. ( 11440743 )
2001
42
Clinical and genetic aspects of spinocerebellar degeneration. ( 10970057 )
2000
43
Vestibular evoked myogenic potentials in patients with spinocerebellar degeneration. ( 11132714 )
2000
44
Diffusion- and T2-weighted MRI of the transverse pontine fibres in spinocerebellar degeneration. ( 11151684 )
2000
45
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. ( 10319888 )
1999
46
Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration. ( 9886474 )
1999
47
Chronic vitamin E deficiency causing spinocerebellar degeneration, peripheral neuropathy, and centro-cecal scotomata. ( 10198917 )
1999
48
Branched-chain amino acid therapy for spinocerebellar degeneration: a pilot clinical crossover trial. ( 10397076 )
1999
49
Parvocellular and magnocellular visual processing in spinocerebellar degeneration and Parkinson's disease: an event-related potential study. ( 10402092 )
1999
50
Therapeutic efficacy of transcranial magnetic stimulation for hereditary spinocerebellar degeneration. ( 10674722 )
1999

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 10.1 PRL S100A6

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 extracellular space GO:0005615 9.1 CBLN3 CD36 CRH NPY PRL SST

Biological processes related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated apoptotic signaling pathway GO:0008628 9.16 CRH SST
2 parturition GO:0007567 8.96 CRH
3 regulation of mitochondrial depolarization GO:0051900 8.96 ABCD1 GCLC
4 response to nutrient GO:0007584 8.8 GCLC SST TTPA

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.16 CRH NPY
2 ADP binding GO:0043531 9.13 ABCD1 GCLC GLUD1
3 hormone activity GO:0005179 8.92 CRH NPY PRL SST

Sources for Spinocerebellar Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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