MCID: CRB059
MIFTS: 36

Cerebellar Degeneration

Categories: Cancer diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Degeneration

MalaCards integrated aliases for Cerebellar Degeneration:

Name: Cerebellar Degeneration 20 53 54 71

Classifications:



External Ids:

UMLS 71 C0262404

Summaries for Cerebellar Degeneration

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 oculomotor apraxia. 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 Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and spinal cord, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

GARD : 20 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...

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 315)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 32.6 CDR2 CDR1
2 oculomotor apraxia 29.5 MRE11 ATM
3 ataxia-telangiectasia 29.3 MRE11 ATM AP2B1
4 aceruloplasminemia 29.0 CACNA1A ATM
5 subacute cerebellar degeneration 11.7
6 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 11.4
7 paraneoplastic neurologic disorders 11.3
8 primary cerebellar degeneration 11.2
9 spinocerebellar ataxia 2 11.2
10 infantile cerebellar-retinal degeneration 11.1
11 paraneoplastic syndromes 11.0
12 spinocerebellar degeneration 11.0
13 menkes disease 10.9
14 ataxia-telangiectasia-like disorder 1 10.9
15 familial hemiplegic migraine 10.9
16 migraine, familial hemiplegic, 1 10.9
17 ataxias and cerebellar or spinocerebellar degeneration 10.9
18 spinocerebellar atrophy 10.9
19 ataxia and polyneuropathy, adult-onset 10.8
20 pathologic nystagmus 10.6
21 lambert-eaton myasthenic syndrome 10.5
22 tremor 10.5
23 small cell carcinoma 10.4
24 ovarian cancer 10.4
25 cerebellar disease 10.4
26 autosomal dominant cerebellar ataxia 10.3
27 lymphoma, hodgkin, classic 10.3
28 limbic encephalitis 10.3
29 ovary adenocarcinoma 10.3
30 encephalitis 10.3
31 alcohol dependence 10.2
32 machado-joseph disease 10.2
33 adenocarcinoma 10.2
34 neuropathy 10.2
35 lambert syndrome 10.2
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
37 olivopontocerebellar atrophy 10.2
38 dysphagia 10.2
39 lymphoma 10.1
40 fallopian tube adenocarcinoma 10.1
41 paraplegia 10.1
42 autoimmune disease 10.1
43 small cell cancer of the lung 10.1
44 endometrial cancer 10.1
45 diffuse large b-cell lymphoma 10.1
46 sensory peripheral neuropathy 10.1
47 gastric adenocarcinoma 10.1
48 b-cell lymphoma 10.1
49 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.1
50 autonomic dysfunction 10.1

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:

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

Drugs & Therapeutics for Cerebellar Degeneration

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Immunoglobulins Phase 2
3 gamma-Globulins Phase 2
4 Antibodies Phase 2
5 Immunoglobulins, Intravenous Phase 2
6 Rho(D) Immune Globulin Phase 2

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)

Search NIH Clinical Center for Cerebellar Degeneration

Genetic Tests for Cerebellar Degeneration

Anatomical Context for Cerebellar Degeneration

MalaCards organs/tissues related to Cerebellar Degeneration:

40
Cerebellum, Brain, Spinal Cord, Cortex, Medulla Oblongata, Pons, Eye

Publications for Cerebellar Degeneration

Articles related to Cerebellar Degeneration:

(show top 50) (show all 1634)
# 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. 61 54
16696854 2006
5
Yo antibodies in ovarian and breast cancer patients detected by a sensitive immunoprecipitation technique. 54 61
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? 61 54
12459456 2002
8
[Familial hemiplegic migraine]. 54 61
15775664 2001
9
Global analysis of ATM polymorphism reveals significant functional constraint. 61 54
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. 61 54
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. 61 54
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. 54 61
8968760 1996
17
Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. 61 54
7671305 1995
18
Lack of Annexin A6 Exacerbates Liver Dysfunction and Reduces Lifespan of Niemann-Pick Type C Protein-Deficient Mice. 61
33345999 2021
19
Paraneoplastic Cerebellar Degeneration: The Importance of Including CDR2L as a Diagnostic Marker. 61
33531379 2021
20
Forced activity and environmental enrichment mildly improve manifestation of rapid cerebellar degeneration in mice. 61
33316321 2021
21
Paraneoplastic cerebellar degeneration associated with anti-Yo antibodies in an ovarian cancer case: A case report. 61
33490355 2021
22
Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of ataxia-telangiectasia lung disease. 61
33608602 2021
23
Acute-onset paraneoplastic cerebellar degeneration secondary to neuroendocrine carcinoma with atypical prognosis: a case report. 61
33583245 2021
24
Paraneoplastic cerebellar degeneration as a presenting manifestation of non-Hodgkin's lymphoma. 61
33555484 2021
25
A Causal Role of the Cerebellum in Auditory Feedback Control of Vocal Production. 61
33555544 2021
26
Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms. 61
33423437 2021
27
Cerebellar Degeneration in Epilepsy: A Systematic Review. 61
33435567 2021
28
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. 61
31743320 2021
29
A Rare Coexistence of Paraneoplastic Cerebellar Degeneration: Papillary Thyroid Carcinoma. 61
33477892 2021
30
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome with SOX-1 Antibodies. 61
33328403 2020
31
Synergistic effects of miR-708-5p and miR-708-3p accelerate the progression of osteoporosis. 61
33322976 2020
32
Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration. 61
32666285 2020
33
Imaging Review of Paraneoplastic Neurologic Syndromes. 61
33093137 2020
34
Context-specific control over the neural dynamics of temporal attention by the human cerebellum. 61
33268365 2020
35
Hodgkin's lymphoma presenting with an unusual horizontal Nystagmus and vertigo. 61
33479986 2020
36
Investigating the Clinical Significance and Research Discrepancies of Balance Training in Degenerative Cerebellar Disease: A Systematic Review. 61
32467491 2020
37
Potential effect of intravenous immunoglobulin against paraneoplastic cerebellar degeneration in progressive ovarian cancer. 61
33005721 2020
38
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice. 61
33228809 2020
39
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation. 61
33160304 2020
40
GTPase Regulator Associated with Focal Adhesion Kinase 1 (GRAF1) Immunoglobulin-Associated Ataxia and Neuropathy. 61
33163561 2020
41
The cerebellar degeneration in ataxia-telangiectasia: A case for genome instability. 61
32871349 2020
42
A Circle RNA Regulatory Axis Promotes Lung Squamous Metastasis via CDR1-Mediated Regulation of Golgi Trafficking. 61
32978168 2020
43
Localization of CDR2L and CDR2 in paraneoplastic cerebellar degeneration. 61
33009713 2020
44
Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years. 61
33143838 2020
45
Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate. 61
32524518 2020
46
Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene. 61
32893728 2020
47
Current Management and Emerging Therapies in Multiple System Atrophy. 61
32767032 2020
48
Breast cancer associated with paraneoplastic cerebellar degeneration: A case series. 61
33078760 2020
49
Anti-SOX1 Antibodies in Paraneoplastic Neurological Syndrome. 61
33029958 2020
50
Measurements of Hand Function in Degenerative Cerebellar Disease: A Case-Control Pilot Study. 61
32167956 2020

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
11.34 MRE11 ATM
2
Show member pathways
11.29 MRE11 ATM
3 11.14 MRE11 ATM
4 10.92 MRE11 ATM
5 10.82 MRE11 ATM
6 10.42 MRE11 ATM
7
Show member pathways
9.83 MRE11 ATM

GO Terms for Cerebellar Degeneration

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

Sources for Cerebellar Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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