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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 52 53 54 71

Classifications:

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


External Ids:

UMLS 71 C0262404
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Summaries for Cerebellar Degeneration

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NINDS : 53 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 cerebellar disease. An important gene associated with Cerebellar Degeneration is CDR2 (Cerebellar Degeneration Related Protein 2), and among its related pathways/superpathways are ATM Pathway and BRCA1 Pathway. 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 : 52 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 : 74 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 317)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 34.2 CDR2 CDR1
2 cerebellar disease 30.3 CACNA1A ATM
3 aceruloplasminemia 29.2 CACNA1A ATM
4 ataxia-telangiectasia 28.7 MRE11 ATM AP2B1
5 subacute cerebellar degeneration 12.7
6 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 12.6
7 primary cerebellar degeneration 12.5
8 paraneoplastic neurologic disorders 12.0
9 spinocerebellar ataxia 2 11.7
10 paraneoplastic syndromes 11.4
11 spinocerebellar degeneration 11.4
12 menkes disease 11.4
13 ataxia-telangiectasia-like disorder 1 11.4
14 familial hemiplegic migraine 11.4
15 infantile cerebellar-retinal degeneration 11.2
16 migraine, familial hemiplegic, 1 11.1
17 ataxias and cerebellar or spinocerebellar degeneration 11.1
18 spinocerebellar atrophy 11.1
19 ataxia and polyneuropathy, adult-onset 10.8
20 pathologic nystagmus 10.5
21 ovarian cancer 10.5
22 lambert-eaton myasthenic syndrome 10.4
23 tremor 10.4
24 small cell carcinoma 10.4
25 adenocarcinoma 10.4
26 breast cancer 10.3
27 small cell cancer of the lung 10.3
28 autosomal dominant cerebellar ataxia 10.2
29 ovary adenocarcinoma 10.2
30 encephalitis 10.2
31 limbic encephalitis 10.2
32 alcohol dependence 10.2
33 lymphoma, hodgkin, classic 10.2
34 neuropathy 10.2
35 olivopontocerebellar atrophy 10.2
36 lambert syndrome 10.1
37 lymphoma 10.1
38 dysphagia 10.1
39 autoimmune disease 10.1
40 machado-joseph disease 10.1
41 paraplegia 10.1
42 acute diffuse nephritis 10.1 CDR2 CDR1
43 anosognosia 10.1 CDR2 CDR1
44 schuurs-hoeijmakers syndrome 10.1 CDR2 CDR1
45 multiple system atrophy 1 10.1
46 endometrial cancer 10.1
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
48 diffuse large b-cell lymphoma 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 9.28 CDR2L MRE11
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 ATM CDR2 CDR2L MRE11
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 ATM 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 Immunoglobulins, Intravenous Phase 2
4 Rho(D) Immune Globulin Phase 2
5 gamma-Globulins Phase 2
6 Immunologic Factors Phase 2
7 Immunoglobulins Phase 2
8 Nicotinic Agonists Phase 2
9 Cholinergic Agents Phase 2
10 Neurotransmitter Agents Phase 2
11
Prednisone Approved, Vet_approved 53-03-2 5865
12
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
13 Immunosuppressive Agents
14 Calcineurin Inhibitors
15 Omega 3 Fatty Acid

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 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
6 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
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:

40
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 1580)
# Title Authors PMID Year
1
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. 61 54
20087742 2010
2
Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to attenuated hypoxic response. 54 61
19581925 2009
3
Functional analysis of CD8+ T cell responses to the onconeural self protein cdr2 in patients with paraneoplastic cerebellar degeneration. 61 54
18053582 2008
4
Molecular morphology and toxicity of cytoplasmic prion protein aggregates in neuronal and non-neuronal cells. 54 61
16696854 2006
5
Yo antibodies in ovarian and breast cancer patients detected by a sensitive immunoprecipitation technique. 61 54
16542365 2006
6
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 61 54
15985579 2005
7
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry? 54 61
12459456 2002
8
[Familial hemiplegic migraine]. 54 61
15775664 2001
9
Global analysis of ATM polymorphism reveals significant functional constraint. 54 61
11443540 2001
10
The cytoplasmic Purkinje onconeural antigen cdr2 down-regulates c-Myc function: implications for neuronal and tumor cell survival. 54 61
10465786 1999
11
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. 54 61
10051016 1999
12
Neuropathological study of cerebellar degeneration in prion disease. 54 61
19519645 1999
13
Selective loss of dopaminergic nigro-striatal neurons in brains of Atm-deficient mice. 54 61
9770541 1998
14
[Physiopathology of calcium channels: identification of calcium channelopathies]. 54 61
9759359 1998
15
Heterozygous ATM mutations do not contribute to early onset of breast cancer. 54 61
9054948 1997
16
Ataxia-telangiectasia: founder effect among north African Jews. 61 54
8968760 1996
17
Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. 61 54
7671305 1995
18
Paraneoplastic cerebellar degeneration in a patient with breast cancer associated with carbonic anhydrase-related protein VIII autoantibodies. 61
32325285 2020
19
Paraneoplastic encephalitis with leukoencephalopathy in primary fallopian tube carcinoma. 61
32395191 2020
20
Long lasting trigeminal neuropathy, limbic encephalitis and abdominal ganglionitis without primary cancer: An atypical case of Hu-antibody syndrome. 61
32388246 2020
21
Paraneoplastic Cerebellar Degeneration in Diffuse Large B-cell Lymphoma and Review of Associated Onconeural Antibodies. 61
32171690 2020
22
A Case of Paraneoplastic Cerebellar Degeneration that Preceded the Diagnosis of Classical Hodgkin's Lymphoma by 16 Months. 61
32574156 2020
23
Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate. 61
32524518 2020
24
CDR1as/miR-7/CKAP4 axis contributes to the pathogenesis of abdominal aortic aneurysm by regulating the proliferation and apoptosis of primary vascular smooth muscle cells. 61
32346440 2020
25
Phase I randomized single-blinded controlled study investigating the potential benefit of aerobic exercise in degenerative cerebellar disease. 61
32037861 2020
26
Non-small cell lung cancer associated with late-onset Lambert-Eaton myasthenic syndrome and paraneoplastic cerebellar degeneration. 61
31735997 2020
27
Cerebellar degeneration in adult spinal muscular atrophy patients. 61
32388834 2020
28
Phase I Single-Blinded Randomized Controlled Trial Comparing Balance and Aerobic Training in Degenerative Cerebellar Disease. 61
32383352 2020
29
CDR2 and CDR2L Yo Antigens in Paraneoplastic Cerebellar Degeneration. 61
32445212 2020
30
Reply to "CDR2 and CDR2L Yo Antigens in Paraneoplastic Cerebellar Degeneration". 61
32445220 2020
31
Rhombencephalitis associated with isolated Zic4-antibodies in Paraneoplastic cerebellar degeneration: a case report. 61
32450842 2020
32
Reply to (HEP-20-0527.R1). 61
32374936 2020
33
Paraneoplastic cerebellar degeneration: initial presentation of mucosa-associated lymphoid tissue lymphoma in a patient with primary Sjögren's syndrome. 61
32187048 2020
34
Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3. 61
31912433 2020
35
Comorbid argyrophilic grain disease in an 87-year-old male with spinocerebellar ataxia type 31 with dementia: a case report. 61
32293309 2020
36
Abnormalities in the cerebellar levels of trophic factors BDNF and GDNF in pcd and lurcher cerebellar mutant mice. 61
32109557 2020
37
Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model. 61
32214165 2020
38
[Ataxia - a group of heterogeneous diseases]. 61
32154899 2020
39
CircRNA CDR1as knockdown inhibits progression of non-small-cell lung cancer by regulating miR-219a-5p/SOX5 axis. 61
31917898 2020
40
Measurements of Hand Function in Degenerative Cerebellar Disease: A Case-Control Pilot Study. 61
32167956 2020
41
Cerebellar degeneration averts blindness-induced despaired behavior during spatial task in mice. 61
32088197 2020
42
Severe Cerebellar Degeneration and Chiari I Malformation - Speculative pathophysiology based on a systematic review. 61
32520161 2020
43
CDR1as/miRNAs-related regulatory mechanisms in muscle development and diseases. 61
31904497 2020
44
Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated. 61
32318493 2020
45
[Vertigo as the first manifestation of ovarian cancer]. 61
32186813 2020
46
Cerebellar Rebound Nystagmus Explained as Gaze-Evoked Nystagmus Relative to an Eccentric Set Point: Implications for the Clinical Examination. 61
32076935 2020
47
Epigenetic Silencing of CDR1as Drives IGF2BP3-Mediated Melanoma Invasion and Metastasis. 61
31935372 2020
48
Paraneoplastic Diseases of the Central Nervous System. 61
32194943 2020
49
Epidemiology of paraneoplastic neurological syndromes: a population-based study. 61
31552550 2020
50
Combined Cerebellar and Spinal Cord Deficits Caused by an Underlying Gynecologic Malignancy. 61
31970005 2020
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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
ATM Pathway 63
Show member pathways
 11.34 MRE11 ATM
2
BRCA1 Pathway 63
Show member pathways
 11.29 MRE11 ATM
3
Regulation of Telomerase 1
11.14 MRE11 ATM
4
Integrated Cancer Pathway 1
10.92 MRE11 ATM
5
ATM Signaling Network in Development and Disease 1
10.82 MRE11 ATM
6
BARD1 signaling events 1
10.42 MRE11 ATM
7
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 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 homologous recombination GO:0000724 9.32 MRE11 ATM
2 double-strand break repair via nonhomologous end joining GO:0006303 9.26 MRE11 ATM
3 telomere maintenance GO:0000723 9.16 MRE11 ATM
4 reciprocal meiotic recombination GO:0007131 8.96 MRE11 ATM
5 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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