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MCID: CRB059
MIFTS: 38

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 53 54 55 72

Classifications:

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


External Ids:

UMLS 72 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 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 cerebellum, brain 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 inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.

Wikipedia : 75 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 314)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 33.7 CDR2 CDR1 CACNA1A
2 primary cerebellar degeneration 33.7 CACNA1A ATXN2
3 spinocerebellar ataxia 2 32.5 CACNA1A ATXN2
4 autosomal dominant cerebellar ataxia 30.1 CACNA1A ATXN2
5 cerebellar disease 30.1 CACNA1A ATM
6 machado-joseph disease 30.0 CACNA1A ATXN2
7 aceruloplasminemia 29.9 CACNA1A ATXN2 ATM
8 dentatorubral-pallidoluysian atrophy 29.7 CACNA1A ATXN2
9 ataxia-telangiectasia 28.9 MRE11 ATM
10 subacute cerebellar degeneration 12.7
11 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 12.4
12 paraneoplastic neurologic disorders 11.9
13 dykes markes harper syndrome 11.9
14 paraneoplastic syndromes 11.5
15 spinocerebellar degeneration 11.4
16 menkes disease 11.4
17 ataxia-telangiectasia-like disorder 1 11.4
18 familial hemiplegic migraine 11.4
19 migraine, familial hemiplegic, 1 11.2
20 infantile cerebellar-retinal degeneration 11.2
21 migraine, familial hemiplegic, 2 11.1
22 migraine, familial hemiplegic, 3 11.1
23 ataxias and cerebellar or spinocerebellar degeneration 11.1
24 spinocerebellar atrophy 11.1
25 ataxia and polyneuropathy, adult-onset 10.8
26 pathologic nystagmus 10.5
27 ovarian cancer 10.5
28 lambert-eaton myasthenic syndrome 10.4
29 tremor 10.4
30 small cell carcinoma 10.4
31 adenocarcinoma 10.4
32 breast cancer 10.3
33 small cell cancer of the lung 10.2
34 ovary adenocarcinoma 10.2
35 encephalitis 10.2
36 limbic encephalitis 10.2
37 alcohol dependence 10.2
38 lymphoma, hodgkin, classic 10.2
39 neuropathy 10.2
40 olivopontocerebellar atrophy 10.2
41 lambert syndrome 10.1
42 lymphoma 10.1
43 dysphagia 10.1
44 autoimmune disease 10.1
45 paraplegia 10.1
46 multiple system atrophy 1 10.1
47 endometrial cancer 10.1
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
49 sensory peripheral neuropathy 10.1
50 fallopian tube adenocarcinoma 10.1

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 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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
2 Antibodies Phase 2
3 Immunologic Factors Phase 2
4 gamma-Globulins Phase 2
5 Immunoglobulins Phase 2
6 Immunoglobulins, Intravenous Phase 2
7 Rho(D) Immune Globulin Phase 2
8 Cholinergic Agents Phase 2
9 Neurotransmitter Agents Phase 2
10 Nicotinic Agonists Phase 2
11
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
12
Prednisone Approved, Vet_approved 53-03-2 5865
13 Omega 3 Fatty Acid
14 Immunosuppressive Agents
15 Calcineurin Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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)
2 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
3 Early Onset Immunotherapy by Intravenous Immunoglobulin in Well-characterized Onconeural-antibody-positive Paraneoplastic Neurological Syndromes Completed NCT02343211 Phase 2 Immunoglobulin
4 Intravenous Levetiracetam as First-line Anticonvulsive Treatment in Patients With Non-convulsive Status Epilepticus Withdrawn NCT00603135 Phase 2 first-line i/v-levetiracetam
5 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
6 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
7 Disorders of Emotional Communication in Patient With Cerebellar Dysfunction Completed NCT02106819

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

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Articles related to Cerebellar Degeneration:

(show top 50) (show all 1539)
# Title Authors PMID Year
1
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. 9 38
20087742 2010
2
Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to attenuated hypoxic response. 9 38
19581925 2009
3
Functional analysis of CD8+ T cell responses to the onconeural self protein cdr2 in patients with paraneoplastic cerebellar degeneration. 9 38
18053582 2008
4
Molecular morphology and toxicity of cytoplasmic prion protein aggregates in neuronal and non-neuronal cells. 9 38
16696854 2006
5
Yo antibodies in ovarian and breast cancer patients detected by a sensitive immunoprecipitation technique. 9 38
16542365 2006
6
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 9 38
15985579 2005
7
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry? 9 38
12459456 2002
8
[Familial hemiplegic migraine]. 9 38
15775664 2001
9
Global analysis of ATM polymorphism reveals significant functional constraint. 9 38
11443540 2001
10
The cytoplasmic Purkinje onconeural antigen cdr2 down-regulates c-Myc function: implications for neuronal and tumor cell survival. 9 38
10465786 1999
11
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. 9 38
10051016 1999
12
Neuropathological study of cerebellar degeneration in prion disease. 9 38
19519645 1999
13
Selective loss of dopaminergic nigro-striatal neurons in brains of Atm-deficient mice. 9 38
9770541 1998
14
[Physiopathology of calcium channels: identification of calcium channelopathies]. 9 38
9759359 1998
15
Heterozygous ATM mutations do not contribute to early onset of breast cancer. 9 38
9054948 1997
16
Ataxia-telangiectasia: founder effect among north African Jews. 9 38
8968760 1996
17
Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. 9 38
7671305 1995
18
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. 38
31229688 2019
19
Mass spectrometry imaging reveals ganglioside and ceramide localization patterns during cerebellar degeneration in the Npc1-/- mouse model. 38
31254056 2019
20
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. 38
30976113 2019
21
CDR2L Is the Major Yo Antibody Target in Paraneoplastic Cerebellar Degeneration. 38
31148214 2019
22
MyoD-induced circular RNA CDR1as promotes myogenic differentiation of skeletal muscle satellite cells. 38
31323434 2019
23
Internal model recalibration does not deteriorate with age while motor adaptation does. 38
31170534 2019
24
Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA). 38
31422550 2019
25
Embryonic Cerebellar Graft Morphology Differs in Two Mouse Models of Cerebellar Degeneration. 38
31418135 2019
26
Circular RNA circ_0001946 acts as a competing endogenous RNA to inhibit glioblastoma progression by modulating miR-671-5p and CDR1. 38
30663767 2019
27
Cognitive and Psychiatric Evaluation in SYNE1 Ataxia. 38
31049853 2019
28
GRP78 antibodies damage the blood-brain barrier and relate to cerebellar degeneration in Lambert-Eaton myasthenic syndrome. 38
31236596 2019
29
Alterations in Cognition-Related Cerebello-Cerebral Networks in Multiple System Atrophy. 38
31069705 2019
30
[Paraneoplastic cerebellar degeneration and primary fallopian cancer]. 38
31239210 2019
31
Degenerative and acquired sporadic adult onset ataxia. 38
30927137 2019
32
Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. 38
31317229 2019
33
Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. 38
31289815 2019
34
Cerebellar Ataxia With Extreme Photophobia Associated With Anti-SOX1 Antibodies. 38
31244974 2019
35
Cerebellar contribution to auditory feedback control of speech production: Evidence from patients with spinocerebellar ataxia. 38
31365181 2019
36
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. 38
31267374 2019
37
Revisiting the Clinical Phenomenology of "Cerebellar Tremor": Beyond the Intention Tremor. 38
30565088 2019
38
Cerebellar Hypermetabolism in a Case of Paraneoplastic Cerebellar Syndrome With the Primary Lymphoepithelial Carcinoma in Tonsil. 38
31162262 2019
39
Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template. 38
30771164 2019
40
Paraneoplastic Cerebellar Degeneration in Nasopharyngeal Carcinoma: a Unique Association. 38
31161534 2019
41
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. 38
30830673 2019
42
A quaint masquerader of breast cancer: Paraneoplastic cerebellar degeneration. 38
31347580 2019
43
Abnormally increased vocal responses to pitch feedback perturbations in patients with cerebellar degeneration. 38
31153297 2019
44
IFN-γ is a therapeutic target in paraneoplastic cerebellar degeneration. 38
30944244 2019
45
'A Story Unheard': anti-Ta associated paraneoplastic cerebellar degeneration in a female. 38
31044049 2019
46
Heat Hyperpyrexia-Induced Cerebellar Degeneration and Anterior Horn Cell Degeneration: A Rare Manifestation. 38
31007449 2019
47
TRIM9 and TRIM67 Are New Targets in Paraneoplastic Cerebellar Degeneration. 38
30350014 2019
48
Can patients with cerebellar disease switch learning mechanisms to reduce their adaptation deficits? 38
30689760 2019
49
Cerebellar degeneration correlates with motor symptoms in Huntington disease. 38
30635944 2019
50
Paraneoplastic cerebellar degeneration: Yo antibody alters mitochondrial calcium buffering capacity. 38
29679372 2019
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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) 64
Show member pathways
 12.43 MRE11 CACNA1A ATM
2
Chks in Checkpoint Regulation 64
Show member pathways
 12.19 MRE11 ATXN2 ATM
3
ATM Pathway 64
Show member pathways
 11.4 MRE11 ATM
4
BRCA1 Pathway 64
Show member pathways
 11.35 MRE11 ATM
5
Regulation of Telomerase 1
11.19 MRE11 ATM
6
Integrated Cancer Pathway 1
10.98 MRE11 ATM
7
ATM Signaling Network in Development and Disease 1
10.92 MRE11 ATM
8
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
10.73 MRE11 CACNA1A ATM
9
BARD1 signaling events 1
10.62 MRE11 ATM
10
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 9.83 MRE11 ATM
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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 MRE11 ATM
2 chromosome, telomeric region GO:0000781 8.62 MRE11 ATM

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 MRE11 ATM
2 telomere maintenance GO:0000723 9.16 MRE11 ATM
3 reciprocal meiotic recombination GO:0007131 8.96 MRE11 ATM
4 DNA double-strand break processing GO:0000729 8.62 MRE11 ATM
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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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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