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MCID: CRB059
MIFTS: 40

Cerebellar Degeneration

Categories: Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Cerebellar Degeneration

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MalaCards integrated aliases for Cerebellar Degeneration:

Name: Cerebellar Degeneration 54 55 56 74

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 74 C0262404
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Summaries for Cerebellar Degeneration

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NINDS : 55 Cerebellar degeneration is a process in which neurons (nerve cells) in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system, including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons.  In some cases the disease is aqauired (is non-hereditary or non-genetic). The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes. Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include: ischemic or hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature Friedreich’s ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that result in ongoing loss of neurons in the cerebellum, brain stem, and spinal cord transmissible spongiform encephalopathies (such as Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, including the cerebellum multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum Acquired diseases that can cause cerebellar degeneration include: chronic alcohol abuse that leads to temporary or permanent cerebellar damage paraneoplastic disorders, in which a malignancy (cancer) in other parts of the body produces substances that cause immune system cells to attack neurons in the cerebellum

MalaCards based summary : Cerebellar Degeneration is related to paraneoplastic cerebellar degeneration and primary cerebellar degeneration. An important gene associated with Cerebellar Degeneration is CDR2 (Cerebellar Degeneration Related Protein 2), and among its related pathways/superpathways are TCR Signaling (Qiagen) and Chks in Checkpoint Regulation. The drugs Varenicline and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include cortex, cerebellum and spinal cord, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

NIH Rare Diseases : 54 Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (the thin layer of cells covering the brain), and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inheritedgene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.

Wikipedia : 77 Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become... more...

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Related Diseases for Cerebellar Degeneration

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Diseases in the Cerebellar Degeneration family:

Primary Cerebellar Degeneration Subacute Cerebellar Degeneration

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 33.7 CACNA1A CDR1 CDR2
2 primary cerebellar degeneration 33.5 ATXN2 CACNA1A
3 spinocerebellar ataxia 2 32.4 ATXN2 CACNA1A
4 autosomal dominant cerebellar ataxia 29.9 ATXN2 CACNA1A
5 dentatorubral-pallidoluysian atrophy 29.5 ATXN2 CACNA1A
6 machado-joseph disease 29.5 ATXN2 CACNA1A
7 ataxia-telangiectasia 29.1 ATM MRE11
8 aceruloplasminemia 29.1 ATM ATXN2 CACNA1A
9 subacute cerebellar degeneration 12.6
10 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 12.3
11 dykes markes harper syndrome 11.8
12 paraneoplastic syndromes 11.3
13 ataxia-telangiectasia-like disorder 1 11.3
14 infantile cerebellar-retinal degeneration 11.1
15 migraine, familial hemiplegic, 1 10.9
16 menkes disease 10.9
17 migraine, familial hemiplegic, 2 10.9
18 migraine, familial hemiplegic, 3 10.9
19 familial hemiplegic migraine 10.9
20 paraneoplastic neurologic disorders 10.9
21 spinocerebellar atrophy 10.9
22 spinocerebellar degeneration 10.9
23 lymphoma 10.3
24 breast cancer 10.3
25 ovarian cancer 10.3
26 adenocarcinoma 10.3
27 ovarian cancer 1 10.3
28 lambert-eaton myasthenic syndrome 10.3
29 lung cancer 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 small cell cancer of the lung 10.1
32 tremor 10.1
33 lymphoma, hodgkin, classic 10.0
34 endometrial cancer 10.0
35 diffuse large b-cell lymphoma 10.0
36 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.0
37 neuropathy 10.0
38 encephalitis 10.0
39 pathologic nystagmus 10.0
40 limbic encephalitis 10.0
41 spinocerebellar ataxia 12 10.0 ATXN2 CACNA1A
42 lambert syndrome 10.0
43 sjogren syndrome 10.0
44 diabetes mellitus 10.0
45 bronchus cancer 10.0
46 diarrhea 10.0
47 neuroleptic malignant syndrome 10.0
48 ichthyosis 10.0
49 squamous cell carcinoma 10.0
50 fallopian tube adenocarcinoma 10.0

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



Diseases related to Cerebellar Degeneration
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Symptoms & Phenotypes for Cerebellar Degeneration

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 ATM CDR2 CDR2L MRE11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 ATM CDR2 CDR2L MRE11
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Drugs & Therapeutics for Cerebellar Degeneration

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
2 Antibodies Phase 2
3 Immunoglobulins, Intravenous Phase 2
4 Immunoglobulins Phase 2
5 Immunologic Factors Phase 2,Not Applicable
6 Rho(D) Immune Globulin Phase 2
7 gamma-Globulins Phase 2
8 Nicotinic Agonists Phase 2
9 Cholinergic Agents Phase 2
10 Neurotransmitter Agents Phase 2
11
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
12
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 6473866 445643 439492
13 Calcineurin Inhibitors Not Applicable
14 Immunosuppressive Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
2 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
3 Intravenous Levetiracetam as First-line Anticonvulsive Treatment in Patients With Non-convulsive Status Epilepticus Withdrawn NCT00603135 Phase 2 first-line i/v-levetiracetam
4 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Not Applicable Tacrolimus
5 Emotional Communication Disorders in Cerebellar Disease Completed NCT02106819
6 Aerobic Exercise, Balance Training, and Ataxia Recruiting NCT03745248 Not Applicable
7 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
8 Ataxia, Imaging, and Exercise Disease Using MRI and Gait Analysis Not yet recruiting NCT03701776 Not Applicable

Search NIH Clinical Center for Cerebellar Degeneration

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Genetic Tests for Cerebellar Degeneration

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Anatomical Context for Cerebellar Degeneration

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MalaCards organs/tissues related to Cerebellar Degeneration:

42
Cortex, Cerebellum, Spinal Cord, Brain, Medulla Oblongata, Eye, Breast
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Publications for Cerebellar Degeneration

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Articles related to Cerebellar Degeneration:

(show top 50) (show all 615)
# Title Authors Year
1
Paraneoplastic cerebellar degeneration: Yo antibody alters mitochondrial calcium buffering capacity. ( 29679372 )
2019
2
Transient Diffusion-weighted Imaging Hyperintensity of the Cerebellar Cortex in Paraneoplastic Cerebellar Degeneration. ( 30210124 )
2019
3
TRIM9 and TRIM67 Are New Targets in Paraneoplastic Cerebellar Degeneration. ( 30350014 )
2019
4
Cerebellar degeneration correlates with motor symptoms in Huntington disease. ( 30635944 )
2019
5
Investigating ARSACS: models for understanding cerebellar degeneration. ( 30636067 )
2019
6
IFN-γ is a therapeutic target in paraneoplastic cerebellar degeneration. ( 30944244 )
2019
7
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. ( 30976113 )
2019
8
Heat Hyperpyrexia-Induced Cerebellar Degeneration and Anterior Horn Cell Degeneration: A Rare Manifestation. ( 31007449 )
2019
9
'A Story Unheard': anti-Ta associated paraneoplastic cerebellar degeneration in a female. ( 31044049 )
2019
10
Paraneoplastic Cerebellar Degeneration Associated With Ovarian Adenocarcinoma: A Case Report and Review of Literature. ( 30532364 )
2018
11
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome Associated with Neuroendocrine Carcinoma of the Oropharynx. ( 29093415 )
2018
12
Anti-ZIC4 associated paraneoplastic cerebellar degeneration in a patient with both diffuse large B-cell lymphoma and incidental smoldering multiple myeloma. ( 29249374 )
2018
13
Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration. ( 29299667 )
2018
14
Moringa oleifera phytochemicals protect the brain against experimental nicotine-induced neurobehavioral disturbances and cerebellar degeneration. ( 29307662 )
2018
15
Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration Manifesting as Acute Cerebellitis with Posterior Cranial Fossa Hypertension. ( 29378343 )
2018
16
The combined effect of cranial-nerve non-invasive neuromodulation with high-intensity physiotherapy on gait and balance in a patient with cerebellar degeneration: a case report. ( 29556411 )
2018
17
Cerebellar degeneration and progressive ataxia associated with HIV-virus infection. ( 29643006 )
2018
18
Progressive Non-familial Adult onset Cerebellar Degeneration: An Unusual Occurrence with Hashimoto's Thyroiditis. ( 29713105 )
2018
19
Cerebellar degeneration in primary Sjӧgren syndrome. ( 29880622 )
2018
20
Transcriptomic immune profiling of ovarian cancers in paraneoplastic cerebellar degeneration associated with anti-Yo antibodies. ( 29899393 )
2018
21
Paraneoplastic cerebellar degeneration associated with cerebellar hypermetabolism: Case report. ( 29901574 )
2018
22
Diabetes Mellitus With Concurrent Cerebellar Degeneration and Necrosis in a Domestic Goose ( Anser anser domesticus). ( 29905099 )
2018
23
Paraneoplastic cerebellar degeneration in a patient with anaplastic non-Hodgkin's lymphoma. ( 29909387 )
2018
24
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. ( 29916023 )
2018
25
Paraneoplastic cerebellar degeneration with bilateral facial palsy: a rare primary presentation of breast cancer. ( 29930189 )
2018
26
A loss of a velocity-duration trade-off impairs movement precision in patients with cerebellar degeneration. ( 29972715 )
2018
27
Paraneoplastic cerebellar degeneration associated with breast cancer: A case report and review of the literature. ( 30101014 )
2018
28
Paraneoplastic cerebellar degeneration as a manifestation of metastatic recurrent carcinoma breast: rare scenario. ( 30150330 )
2018
29
Detection of subthreshold atrophy in crossed cerebellar degeneration via two-compartment mathematical modeling of cell density in DWI: A proof of concept study. ( 30220350 )
2018
30
Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality. ( 30393031 )
2018
31
Pearls & Oy-sters: Windmill nystagmus in paraneoplastic cerebellar degeneration. ( 30397048 )
2018
32
Double dissociation of single-interval and rhythmic temporal prediction in cerebellar degeneration and Parkinson's disease. ( 30425170 )
2018
33
Long-Standing evolution of paraneoplastic cerebellar degeneration in a diffuse large B-cell lymphoma. ( 30476652 )
2018
34
Anti-Yo antibody-mediated paraneoplastic cerebellar degeneration associated with cognitive affective syndrome in a patient with breast cancer: a case report and literature review. ( 30607127 )
2018
35
Twenty years of cerebellar degeneration research at the department of pathological physiology, faculty of medicine, Pilsen, Charles University. ( 30607966 )
2018
36
Thymic Carcinoma Associated with Cerebellar Degeneration. ( 30756016 )
2018
37
Paraneoplastic Cerebellar Degeneration Associated with Pelvic Liposarcoma: A Rare Case Report. ( 28092914 )
2018
38
A Rare Clinical Entity in Bladder Cancer: Paraneoplastic Cerebellar Degeneration. ( 28506560 )
2017
39
Paraneoplastic cerebellar degeneration secondary to ovarian carcinosarcoma: a cerebellar conundrum. ( 28790096 )
2017
40
Subacute Cerebellar Degeneration due to a Paraneoplastic Phenomenon Associated with Metastatic Merkel Cell Carcinoma: A Case Report. ( 28878663 )
2017
41
Alkylation induced cerebellar degeneration dependent on Aag and Parp1 does not occur via previously established cell death mechanisms. ( 28886188 )
2017
42
Effects of transcranial direct current stimulation on grip force control in patients with cerebellar degeneration. ( 28932407 )
2017
43
Rehabilitation for a patient with anti-Yo antibody-positive paraneoplastic cerebellar degeneration caused by breast cancer: A case report and literature review. ( 29095299 )
2017
44
Years of Drinking but Not the Amount of Alcohol Intake Contribute to the Association Between Alcoholic Cerebellar Degeneration and Worse Cognitive Performance. A Population-Based Study. ( 27696290 )
2017
45
Hodgkin's lymphoma associated with paraneoplastic cerebellar degeneration in children: a case report and review of the literature. ( 27796550 )
2017
46
Anti-Yo positive paraneoplastic cerebellar degeneration in the setting of cholangiocarcinoma. ( 27816258 )
2017
47
Restoring Balance: Paraneoplastic Cerebellar Degeneration. ( 27816447 )
2017
48
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
49
Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration. ( 27957508 )
2017
50
Paraneoplastic cerebellar degeneration and lambert-eaton myasthenia in a patient with merkel cell carcinoma and voltage-gated calcium channel antibodies. ( 28006860 )
2017
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Variations for Cerebellar Degeneration

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Expression for Cerebellar Degeneration

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Search GEO for disease gene expression data for Cerebellar Degeneration.
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Pathways for Cerebellar Degeneration

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

# Super pathways Score Top Affiliating Genes
1
TCR Signaling (Qiagen) 65
Show member pathways
 12.43 ATM CACNA1A MRE11
2
Chks in Checkpoint Regulation 65
Show member pathways
 12.19 ATM ATXN2 MRE11
3
ATM Pathway 65
Show member pathways
 11.4 ATM MRE11
4
BRCA1 Pathway 65
Show member pathways
 11.35 ATM MRE11
5
Regulation of Telomerase 1
11.19 ATM MRE11
6
ATM Signaling Network in Development and Disease 1
10.98 ATM MRE11
7
Integrated Cancer Pathway 1
10.92 ATM MRE11
8
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
10.73 ATM CACNA1A MRE11
9
BARD1 signaling events 1
10.62 ATM MRE11
10
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 9.83 ATM MRE11
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GO Terms for Cerebellar Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.96 ATM MRE11
2 chromosome, telomeric region GO:0000781 8.62 ATM MRE11

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

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair via nonhomologous end joining GO:0006303 9.26 ATM MRE11
2 telomere maintenance GO:0000723 9.16 ATM MRE11
3 reciprocal meiotic recombination GO:0007131 8.96 ATM MRE11
4 DNA double-strand break processing GO:0000729 8.62 ATM MRE11
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Sources for Cerebellar Degeneration

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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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