MCID: CRB059
MIFTS: 40

Cerebellar Degeneration

Categories: Rare diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Degeneration

MalaCards integrated aliases for Cerebellar Degeneration:

Name: Cerebellar Degeneration 49 50 51 69

Classifications:



External Ids:

UMLS 69 C0262404

Summaries for Cerebellar Degeneration

NINDS : 50 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 CDR1 (Cerebellar Degeneration Related Protein 1), 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 : 49 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. Last updated: 12/14/2014

Related Diseases for Cerebellar Degeneration

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 155)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 33.3 CACNA1A CDR1 CDR2
2 spinocerebellar ataxia 2 32.1 ATXN2 CACNA1A
3 autosomal dominant cerebellar ataxia 29.5 ATXN2 CACNA1A
4 dentatorubral-pallidoluysian atrophy 29.3 ATXN2 CACNA1A
5 machado-joseph disease 29.2 ATXN2 CACNA1A
6 ataxia-telangiectasia 28.9 ATM MRE11
7 aceruloplasminemia 28.7 ATM ATXN2 CACNA1A
8 subacute cerebellar degeneration 12.4
9 primary cerebellar degeneration 12.1
10 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 12.1
11 cerebellar degeneration-related autoantigen 3 12.0
12 dykes markes harper syndrome 11.6
13 paraneoplastic syndromes 11.1
14 ataxia-telangiectasia-like disorder 1 11.1
15 infantile cerebellar-retinal degeneration 10.9
16 menkes disease 10.8
17 familial hemiplegic migraine 10.8
18 paraneoplastic neurologic disorders 10.8
19 ataxias and cerebellar or spinocerebellar degeneration 10.8
20 spinocerebellar atrophy 10.8
21 spinocerebellar degeneration 10.8
22 neuronitis 10.2
23 ataxia and polyneuropathy, adult-onset 10.2
24 lymphoma 10.2
25 adenocarcinoma 10.2
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
27 lambert-eaton myasthenic syndrome 10.1
28 ovarian cancer 10.1
29 ovarian cancer 1 10.1
30 lung cancer 10.0
31 hereditary ataxia 10.0 ATXN2 CACNA1A
32 prostatitis 10.0
33 spinocerebellar ataxia 12 10.0 ATXN2 CACNA1A
34 small cell cancer of the lung 10.0
35 tremor 10.0
36 lymphoma, hodgkin, classic 9.9
37 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.9
38 encephalitis 9.9
39 limbic encephalitis 9.9
40 friedreich ataxia 1 9.9 ATXN2 CACNA1A
41 breast cancer 9.8
42 lambert syndrome 9.8
43 suppression of tumorigenicity 12 9.8
44 b-cell lymphomas 9.8
45 diffuse large b-cell lymphoma 9.8
46 neuroleptic malignant syndrome 9.8
47 squamous cell carcinoma 9.8
48 fallopian tube adenocarcinoma 9.8
49 merkel cell carcinoma 9.8
50 neuropathy 9.8

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



Diseases related to Cerebellar Degeneration

Symptoms & Phenotypes for Cerebellar Degeneration

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

25
# 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

Drugs & Therapeutics for Cerebellar Degeneration

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 Immunoglobulins Phase 2
8 Immunoglobulins, Intravenous Phase 2
9 Antibodies Phase 2
10
Tacrolimus Approved, Investigational 104987-11-3 445643 439492
11
Prednisone Approved, Vet_approved 53-03-2 5865
12 Immunosuppressive Agents
13 Calcineurin Inhibitors

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 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

Genetic Tests for Cerebellar Degeneration

Anatomical Context for Cerebellar Degeneration

MalaCards organs/tissues related to Cerebellar Degeneration:

38
Brain, Cerebellum, Cortex, Spinal Cord, Eye, Breast, Lung

Publications for Cerebellar Degeneration

Articles related to Cerebellar Degeneration:

(show top 50) (show all 572)
# Title Authors Year
1
Anti-ZIC4 associated paraneoplastic cerebellar degeneration in a patient with both diffuse large B-cell lymphoma and incidental smoldering multiple myeloma. ( 29249374 )
2018
2
Anti-Yo associated paraneoplastic cerebellar degeneration presenting as an acute cerebellitis with posterior cranial fossa hypertension. ( 29378343 )
2018
3
Moringa oleifera phytochemicals protect the brain against experimental nicotine-induced neurobehavioral disturbances and cerebellar degeneration. ( 29307662 )
2018
4
Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration. ( 29299667 )
2018
5
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome Associated with Neuroendocrine Carcinoma of the Oropharynx. ( 29093415 )
2018
6
Paraneoplastic Cerebellar Degeneration Associated with Pelvic Liposarcoma: A Rare Case Report. ( 28092914 )
2017
7
Cerebellar degeneration-related proteins 2 and 2-like are present in ovarian cancer in patients with and without Yo antibodies. ( 28710511 )
2017
8
A Rare Clinical Entity in Bladder Cancer: Paraneoplastic Cerebellar Degeneration. ( 28506560 )
2017
9
Paraneoplastic cerebellar degeneration in a patient with a primary fallopian tube adenocarcinoma. A case report and brief review. ( 28386581 )
2017
10
Anti-Yo positive paraneoplastic cerebellar degeneration in the setting of cholangiocarcinoma. ( 27816258 )
2017
11
Anti-Yo positive and late-onset paraneoplastic cerebellar degeneration associated with ovarian carcinoma: A case report. ( 28796031 )
2017
12
Rehabilitation for a patient with anti-Yo antibody-positive paraneoplastic cerebellar degeneration caused by breast cancer: A case report and literature review. ( 29095299 )
2017
13
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
14
Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration. ( 27957508 )
2017
15
Paraneoplastic cerebellar degeneration secondary to ovarian carcinosarcoma: a cerebellar conundrum. ( 28790096 )
2017
16
Subacute Cerebellar Degeneration due to a Paraneoplastic Phenomenon Associated with Metastatic Merkel Cell Carcinoma: A Case Report. ( 28878663 )
2017
17
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
18
Cerebellar degeneration affects cortico-cortical connectivity in motor learning networks. ( 28761810 )
2017
19
Structural cerebellar correlates of cognitive and motor dysfunctions in cerebellar degeneration. ( 28043955 )
2017
20
Effects of transcranial direct current stimulation on grip force control in patients with cerebellar degeneration. ( 28932407 )
2017
21
Permanent Cerebellar Degeneration After Acute Hyperthermia with Non-toxic Lithium Levels: a Case Report and Review of Literature. ( 28593454 )
2017
22
Alkylation induced cerebellar degeneration dependent on Aag and Parp1 does not occur via previously established cell death mechanisms. ( 28886188 )
2017
23
Impaired Feedforward Control and Enhanced Feedback Control of Speech in Patients with Cerebellar Degeneration. ( 28842410 )
2017
24
Anti-Yo Mediated Paraneoplastic Cerebellar Degeneration Associated with Pseudobulbar Affect in a Patient with Breast Cancer. ( 28377827 )
2017
25
Paraneoplastic cerebellar degeneration associated with anti-ITPR1 antibodies. ( 28203616 )
2017
26
Paraneoplastic Cerebellar Degeneration-A Rare Presentation of Ovarian Malignancy. ( 27803545 )
2016
27
Secondary orthostatic tremor in the setting of cerebellar degeneration. ( 26765757 )
2016
28
Restoring Balance: Paraneoplastic Cerebellar Degeneration. ( 27816447 )
2016
29
Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenia in a patient with Merkel cell carcinoma and voltage-gated calcium channel antibodies. ( 28006860 )
2016
30
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
31
Voltage-Gated P/Q-Type Calcium Channel Antibodies Associated With Cerebellar Degeneration. ( 27436538 )
2016
32
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
33
Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration. ( 26908626 )
2016
34
Paraneoplastic cerebellar degeneration with anti-Yo antibodies - a review. ( 27606347 )
2016
35
Population-based study of alcoholic cerebellar degeneration: The Atahualpa Project. ( 27423619 )
2016
36
Voltage-gated calcium channel autoimmune cerebellar degeneration: Case and study of cytotoxicity. ( 27088118 )
2016
37
Anti-Ri antibody-mediated paraneoplastic cerebellar degeneration: A rare, treatable yet poorly recognized entity. ( 27625249 )
2016
38
Hodgkin's lymphoma associated with paraneoplastic cerebellar degeneration in children: a case report and review of the literature. ( 27796550 )
2016
39
Smaller Absolute Quantities but Greater Relative Densities of Microvessels Are Associated with Cerebellar Degeneration in Lurcher Mice. ( 27147979 )
2016
40
Autoimmune neurological syndromes associated limbic encephalitis and paraneoplastic cerebellar degeneration. ( 27592059 )
2016
41
A case of slowly progressive anti-Yo-associated paraneoplastic cerebellar degeneration successfully treated with antitumor and immunotherapy. ( 27356731 )
2016
42
Multiple System Atrophy Mistaken for Autoimmune Cerebellar Degeneration. ( 27107926 )
2016
43
Paraneoplastic cerebellar degeneration as a marker of endometrial cancer recurrence. ( 27194676 )
2016
44
Paraneoplastic cerebellar degeneration and endometrial cancer: a rare occurrence. ( 27020505 )
2016
45
Alcohol-related cerebellar degeneration: not all down to toxicity? ( 27729985 )
2016
46
Progressive cerebellar degeneration revealing Primary SjAPgren Syndrome: a case report. ( 27777786 )
2016
47
Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice. ( 26051944 )
2015
48
Early-stage Alcoholic Cerebellar Degeneration: Diagnostic Imaging Clues. ( 26848494 )
2015
49
Rapid Eye Movement-Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy. ( 26414894 )
2015
50
Paraneoplastic cerebellar degeneration associated with small cell neuroendocrine mediastinal carcinoma. ( 26026691 )
2015

Variations for Cerebellar Degeneration

Expression for Cerebellar Degeneration

Search GEO for disease gene expression data for Cerebellar Degeneration.

Pathways for Cerebellar Degeneration

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 ATM ATXN2 MRE11
2
Show member pathways
11.37 ATM MRE11
3
Show member pathways
11.32 ATM MRE11
4 11.19 ATM MRE11
5 10.92 ATM MRE11
6 10.82 ATM MRE11
7 10.42 ATM MRE11
8
Show member pathways
9.83 ATM MRE11

GO Terms for Cerebellar Degeneration

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

# Name GO ID Score Top Affiliating Genes
1 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 9.37 ATM MRE11
2 double-strand break repair via nonhomologous end joining GO:0006303 9.32 ATM MRE11
3 DNA synthesis involved in DNA repair GO:0000731 9.26 ATM MRE11
4 reciprocal meiotic recombination GO:0007131 9.16 ATM MRE11
5 strand displacement GO:0000732 8.96 ATM MRE11
6 DNA double-strand break processing GO:0000729 8.62 ATM MRE11

Sources for Cerebellar Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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