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Cerebellar Degeneration

Categories: Rare diseases, Neuronal diseases, Metabolic 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 53 54 55 73

Classifications:

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


External Ids:

UMLS 73 C0262404
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Summaries for Cerebellar Degeneration

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NINDS : 54 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 spinocerebellar ataxia 2. An important gene associated with Cerebellar Degeneration is CDR2 (Cerebellar Degeneration Related Protein 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and ATM Pathway. The drugs Varenicline and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

NIH Rare Diseases : 53 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.

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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 153)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 33.2 CACNA1A CDR1 CDR2
2 spinocerebellar ataxia 2 32.1 ATXN2 CACNA1A
3 dentatorubral-pallidoluysian atrophy 29.4 ATXN2 CACNA1A
4 machado-joseph disease 29.3 ATXN2 CACNA1A
5 autosomal dominant cerebellar ataxia 29.2 ATXN2 CACNA1A
6 ataxia-telangiectasia 28.5 ATM MRE11
7 aceruloplasminemia 28.2 ATM ATXN2 CACNA1A
8 subacute cerebellar degeneration 12.4
9 primary cerebellar degeneration 12.1
10 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 12.1
11 dykes markes harper syndrome 11.6
12 paraneoplastic syndromes 11.1
13 ataxia-telangiectasia-like disorder 1 11.1
14 infantile cerebellar-retinal degeneration 10.9
15 menkes disease 10.8
16 familial hemiplegic migraine 10.8
17 paraneoplastic neurologic disorders 10.8
18 ataxias and cerebellar or spinocerebellar degeneration 10.8
19 spinocerebellar atrophy 10.8
20 spinocerebellar degeneration 10.8
21 neuronitis 10.2
22 lymphoma 10.2
23 adenocarcinoma 10.2
24 breast cancer 10.1
25 ovarian cancer 10.1
26 ovarian cancer 1 10.1
27 lambert-eaton myasthenic syndrome 10.1
28 lung cancer 10.0
29 prostatitis 10.0
30 spinocerebellar ataxia 12 10.0 ATXN2 CACNA1A
31 small cell cancer of the lung 10.0
32 lymphoma, hodgkin, classic 9.9
33 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.9
34 encephalitis 9.9
35 limbic encephalitis 9.9
36 tremor 9.9
37 lambert syndrome 9.8
38 suppression of tumorigenicity 12 9.8
39 b-cell lymphomas 9.8
40 diabetes mellitus 9.8
41 diffuse large b-cell lymphoma 9.8
42 neuroleptic malignant syndrome 9.8
43 squamous cell carcinoma 9.8
44 fallopian tube adenocarcinoma 9.8
45 merkel cell carcinoma 9.8
46 neuropathy 9.8
47 friedreich ataxia 1 9.8 ATXN2 CACNA1A
48 myeloma, multiple 9.8
49 combined immunodeficiency, x-linked 9.8
50 aging 9.8

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 CDR2L MRE11 ATM CDR2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 CDR2L MRE11 ATM CDR2
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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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
2 Rho(D) Immune Globulin Phase 2
3 Cholinergic Agents Phase 2
4 gamma-Globulins Phase 2
5 Neurotransmitter Agents Phase 2
6 Nicotinic Agonists Phase 2
7 Antibodies Phase 2
8 Immunoglobulins Phase 2
9 Immunoglobulins, Intravenous Phase 2
10
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492
11
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
12 Immunosuppressive Agents Not Applicable
13 Calcineurin Inhibitors 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 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008

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:

41
Brain, Cerebellum, Cortex, Spinal Cord, Eye, Breast, Lung
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Publications for Cerebellar Degeneration

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Articles related to Cerebellar Degeneration:

(show top 50) (show all 587)
# Title Authors Year
1
Cerebellar degeneration in primary SjOsgren syndrome. ( 29880622 )
2018
2
Anti-Yo associated paraneoplastic cerebellar degeneration presenting as an acute cerebellitis with posterior cranial fossa hypertension. ( 29378343 )
2018
3
Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration. ( 29299667 )
2018
4
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome Associated with Neuroendocrine Carcinoma of the Oropharynx. ( 29093415 )
2018
5
A loss of a velocity-duration trade-off impairs movement precision in patients with cerebellar degeneration. ( 29972715 )
2018
6
Cerebellar degeneration and progressive ataxia associated with HIV-virus infection. ( 29643006 )
2018
7
Paraneoplastic cerebellar degeneration with bilateral facial palsy: a rare primary presentation of breast cancer. ( 29930189 )
2018
8
Anti-ZIC4 associated paraneoplastic cerebellar degeneration in a patient with both diffuse large B-cell lymphoma and incidental smoldering multiple myeloma. ( 29249374 )
2018
9
Progressive Non-familial Adult onset Cerebellar Degeneration: An Unusual Occurrence with Hashimoto's Thyroiditis. ( 29713105 )
2018
10
Paraneoplastic cerebellar degeneration: Yo antibody alters mitochondrial calcium buffering capacity. ( 29679372 )
2018
11
Transcriptomic immune profiling of ovarian cancers in paraneoplastic cerebellar degeneration associated with anti-Yo antibodies. ( 29899393 )
2018
12
Moringa oleifera phytochemicals protect the brain against experimental nicotine-induced neurobehavioral disturbances and cerebellar degeneration. ( 29307662 )
2018
13
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
14
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
15
Diabetes Mellitus With Concurrent Cerebellar Degeneration and Necrosis in a Domestic Goose ( Anser anser domesticus). ( 29905099 )
2018
16
Paraneoplastic cerebellar degeneration associated with cerebellar hypermetabolism: Case report. ( 29901574 )
2018
17
Paraneoplastic cerebellar degeneration in a patient with anaplastic non-Hodgkin's lymphoma. ( 29909387 )
2018
18
Cerebellar degeneration-related proteins 2 and 2-like are present in ovarian cancer in patients with and without Yo antibodies. ( 28710511 )
2017
19
Paraneoplastic cerebellar degeneration in a patient with a primary fallopian tube adenocarcinoma. A case report and brief review. ( 28386581 )
2017
20
Anti-Yo Mediated Paraneoplastic Cerebellar Degeneration Associated with Pseudobulbar Affect in a Patient with Breast Cancer. ( 28377827 )
2017
21
Effects of transcranial direct current stimulation on grip force control in patients with cerebellar degeneration. ( 28932407 )
2017
22
Anti-Yo positive paraneoplastic cerebellar degeneration in the setting of cholangiocarcinoma. ( 27816258 )
2017
23
Paraneoplastic Cerebellar Degeneration Associated with Pelvic Liposarcoma: A Rare Case Report. ( 28092914 )
2017
24
Impaired Feedforward Control and Enhanced Feedback Control of Speech in Patients with Cerebellar Degeneration. ( 28842410 )
2017
25
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
26
Anti-Yo positive and late-onset paraneoplastic cerebellar degeneration associated with ovarian carcinoma: A case report. ( 28796031 )
2017
27
Paraneoplastic cerebellar degeneration secondary to ovarian carcinosarcoma: a cerebellar conundrum. ( 28790096 )
2017
28
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
29
Rehabilitation for a patient with anti-Yo antibody-positive paraneoplastic cerebellar degeneration caused by breast cancer: A case report and literature review. ( 29095299 )
2017
30
A Rare Clinical Entity in Bladder Cancer: Paraneoplastic Cerebellar Degeneration. ( 28506560 )
2017
31
Paraneoplastic cerebellar degeneration associated with anti-ITPR1 antibodies. ( 28203616 )
2017
32
Cerebellar degeneration affects cortico-cortical connectivity in motor learning networks. ( 28761810 )
2017
33
Subacute Cerebellar Degeneration due to a Paraneoplastic Phenomenon Associated with Metastatic Merkel Cell Carcinoma: A Case Report. ( 28878663 )
2017
34
Alkylation induced cerebellar degeneration dependent on Aag and Parp1 does not occur via previously established cell death mechanisms. ( 28886188 )
2017
35
Structural cerebellar correlates of cognitive and motor dysfunctions in cerebellar degeneration. ( 28043955 )
2017
36
Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration. ( 27957508 )
2017
37
Permanent Cerebellar Degeneration After Acute Hyperthermia with Non-toxic Lithium Levels: a Case Report and Review of Literature. ( 28593454 )
2017
38
An uncommon manifestation of paraneoplastic cerebellar degeneration in a patient with high grade urothelial, carcinoma with squamous differentiation: A case report and literature review. ( 27209351 )
2016
39
Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenia in a patient with Merkel cell carcinoma and voltage-gated calcium channel antibodies. ( 28006860 )
2016
40
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 )
2016
41
Progressive cerebellar degeneration revealing Primary SjAPgren Syndrome: a case report. ( 27777786 )
2016
42
Paraneoplastic cerebellar degeneration as a marker of endometrial cancer recurrence. ( 27194676 )
2016
43
Hodgkin's lymphoma associated with paraneoplastic cerebellar degeneration in children: a case report and review of the literature. ( 27796550 )
2016
44
Autoimmune neurological syndromes associated limbic encephalitis and paraneoplastic cerebellar degeneration. ( 27592059 )
2016
45
Alcohol-related cerebellar degeneration: not all down to toxicity? ( 27729985 )
2016
46
Paraneoplastic cerebellar degeneration and endometrial cancer: a rare occurrence. ( 27020505 )
2016
47
Secondary orthostatic tremor in the setting of cerebellar degeneration. ( 26765757 )
2016
48
Population-based study of alcoholic cerebellar degeneration: The Atahualpa Project. ( 27423619 )
2016
49
Multiple System Atrophy Mistaken for Autoimmune Cerebellar Degeneration. ( 27107926 )
2016
50
Paraneoplastic cerebellar degeneration with anti-Yo antibodies - a review. ( 27606347 )
2016
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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
Chks in Checkpoint Regulation 64
Show member pathways
 12.15 ATM ATXN2 MRE11
2
ATM Pathway 64
Show member pathways
 11.37 ATM MRE11
3
BRCA1 Pathway 64
Show member pathways
 11.32 ATM MRE11
4
Regulation of Telomerase 1
11.14 ATM MRE11
5
ATM Signaling Network in Development and Disease 1
10.92 ATM MRE11
6
Integrated Cancer Pathway 1
10.82 ATM MRE11
7
BARD1 signaling events 1
10.42 ATM MRE11
8
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 homologous recombination GO:0000724 9.4 ATM MRE11
2 double-strand break repair via nonhomologous end joining GO:0006303 9.37 ATM MRE11
3 telomere maintenance GO:0000723 9.32 ATM MRE11
4 DNA synthesis involved in DNA repair GO:0000731 9.26 ATM MRE11
5 reciprocal meiotic recombination GO:0007131 9.16 ATM MRE11
6 strand displacement GO:0000732 8.96 ATM MRE11
7 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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