ACERULOP
MCID: CRB042
MIFTS: 63

Cerebellar Ataxia (ACERULOP) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia

Aliases & Descriptions for Cerebellar Ataxia:

Name: Cerebellar Ataxia 54 38 12 13 14
Aceruloplasminemia 56 66
Hemosiderosis, Systemic, Due to Aceruloplasminemia 54
Aceruloplasminemia Hypoceruloplasminemia, Included 54
Systemic Hemosiderosis Due to Aceruloplasminemia 29
Familial Apoceruloplasmin Deficiency 69
Hereditary Ceruloplasmin Deficiency 56
Ceruloplasmin Deficiency 69
Acerulop 66

Characteristics:

Orphanet epidemiological data:

56
aceruloplasminemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan),<1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

HPO:

32
cerebellar ataxia:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 604290
Disease Ontology 12 DOID:0050753
Orphanet 56 ORPHA48818
MESH via Orphanet 43 C536004
ICD10 via Orphanet 34 G23.0
MeSH 42 D019189

Summaries for Cerebellar Ataxia

UniProtKB/Swiss-Prot : 66 Aceruloplasminemia: An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.

MalaCards based summary : Cerebellar Ataxia, also known as aceruloplasminemia, is related to spinocerebellar ataxia, autosomal recessive 3 and aceruloplasminemia, and has symptoms including ataxia, torticollis and diabetes mellitus. An important gene associated with Cerebellar Ataxia is CP (Ceruloplasmin), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Long-term depression. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A cerebellar disease characterized by ataxia originating in the cerebellum.

Wikipedia : 71 Cerebellar ataxia is a form of ataxia originating in the... more...

Description from OMIM: 604290

Related Diseases for Cerebellar Ataxia

Diseases in the Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Autosomal Dominant Cerebellar Ataxia
Syne1-Related Autosomal Recessive Cerebellar Ataxia

Diseases related to Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 369)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 3 32.0 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
2 aceruloplasminemia 12.5
3 cerebellar ataxia and hypogonadotropic hypogonadism 12.3
4 autosomal dominant cerebellar ataxia 12.2
5 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.2
6 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 12.2
7 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.2
8 cerebellar ataxia, nonprogressive, with mental retardation 12.2
9 autosomal recessive cerebellar ataxia 12.2
10 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.2
11 cognitive impairment with or without cerebellar ataxia 12.1
12 cerebellar ataxia and ectodermal dysplasia 12.1
13 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.1
14 myoclonus, cerebellar ataxia, and deafness 12.0
15 syne1-related autosomal recessive cerebellar ataxia 12.0
16 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency 11.9
17 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 11.9
18 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 11.9
19 gillespie syndrome 11.9
20 brachydactyly-nystagmus-cerebellar ataxia 11.9
21 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 11.8
22 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 11.8
23 autosomal recessive cerebellar ataxia with late-onset spasticity 11.8
24 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 11.8
25 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 11.8
26 spinocerebellar ataxia 13 11.8
27 spinocerebellar ataxia, autosomal recessive 8 11.7
28 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 11.7
29 coenzyme q10 deficiency, primary, 4 11.7
30 ataxia, cerebellar, cayman type 11.7
31 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
32 spinocerebellar ataxia, autosomal recessive 18 11.6
33 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
34 spinocerebellar ataxia, x-linked 1 11.6
35 capos syndrome 11.6
36 spinocerebellar ataxia 2 11.6
37 spinocerebellar ataxia, autosomal recessive 17 11.5
38 spinocerebellar ataxia, autosomal recessive 12 11.5
39 spinocerebellar ataxia, autosomal recessive 15 11.5
40 spinocerebellar ataxia 7 11.5
41 ataxia-telangiectasia 11.5
42 migraine, familial hemiplegic, 1 11.5
43 harding ataxia 11.5
44 spinocerebellar ataxia 1 11.4
45 gerstmann-straussler disease 11.4
46 polymicrogyria, bilateral frontoparietal 11.4
47 spinocerebellar ataxia 27 11.4
48 spinocerebellar ataxia, autosomal recessive 14 11.4
49 marinesco-sjogren syndrome 11.4
50 machado-joseph disease 11.4

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



Diseases related to Cerebellar Ataxia

Symptoms & Phenotypes for Cerebellar Ataxia

Symptoms by clinical synopsis from OMIM:

604290

Clinical features from OMIM:

604290

Human phenotypes related to Cerebellar Ataxia:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 torticollis 56 32 Frequent (79-30%) HP:0000473
3 diabetes mellitus 56 32 Very frequent (99-80%) HP:0000819
4 dysarthria 56 32 Occasional (29-5%) HP:0001260
5 chorea 56 32 Very frequent (99-80%) HP:0002072
6 dementia 56 32 Frequent (79-30%) HP:0000726
7 blepharospasm 56 32 Frequent (79-30%) HP:0000643
8 increased serum ferritin 56 32 Very frequent (99-80%) HP:0003281
9 scanning speech 32 HP:0002168
10 tremor 56 Very frequent (99-80%)
11 abnormality of extrapyramidal motor function 32 HP:0002071
12 cogwheel rigidity 32 HP:0002396
13 involuntary movements 56 Frequent (79-30%)
14 depression 56 Frequent (79-30%)
15 hypothyroidism 56 Occasional (29-5%)
16 behavioral abnormality 56 Frequent (79-30%)
17 delayed speech and language development 56 Frequent (79-30%)
18 hypertonia 56 Frequent (79-30%)
19 anemia 32 HP:0001903
20 congestive heart failure 56 Occasional (29-5%)
21 memory impairment 56 Occasional (29-5%)
22 parkinsonism 56 Frequent (79-30%)
23 decreased serum ceruloplasmin 56 Very frequent (99-80%)
24 retinal degeneration 32 HP:0000546
25 elevated hepatic iron concentration 56 Very frequent (99-80%)
26 refractory anemia 56 Very frequent (99-80%)
27 retinal lesions 56 Very frequent (99-80%)

UMLS symptoms related to Cerebellar Ataxia:


ataxia, torticollis, cogwheel rigidity, abnormality of extrapyramidal motor function, scanning speech

MGI Mouse Phenotypes related to Cerebellar Ataxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATXN7 CA8 CACNA1A CP DNMT1 GRID2
2 growth/size/body region MP:0005378 9.93 ATXN7 CA8 CACNA1A DNMT1 GRID2 SYNE1
3 nervous system MP:0003631 9.83 ATCAY ATN1 ATP8A2 ATXN1 ATXN2 ATXN3
4 vision/eye MP:0005391 9.17 ATP8A2 ATXN7 CACNA1A CP GRID2 SYNE1

Drugs & Therapeutics for Cerebellar Ataxia

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

(show top 50) (show all 283)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3
Doxepin Approved Phase 4 1668-19-5 667477 667468
4
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
5
Oxymetazoline Approved Phase 4 1491-59-4 4636
6
Phenylephrine Approved Phase 4 59-42-7 6041
7
Zolpidem Approved Phase 4 82626-48-0 5732
8
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
9
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
10
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
11
Citalopram Approved Phase 4 59729-33-8 2771
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13
Amantadine Approved Phase 4 768-94-5 2130
14
Chlordiazepoxide Approved, Illicit Phase 4 58-25-3 2712
15
Ethanol Approved Phase 4,Phase 3 64-17-5 702
16
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
17
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
18
Sulfadiazine Approved, Vet_approved Phase 4 68-35-9 5215
19
Sulfamethoxazole Approved Phase 4 723-46-6 5329
20
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
21
Acetylcholine Approved Phase 4 51-84-3 187
22
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
23
Metformin Approved Phase 4 657-24-9 14219 4091
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
25
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
26 Adrenergic Agents Phase 4
27 Adrenergic Agonists Phase 4
28 Adrenergic alpha-2 Receptor Agonists Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
31 Antihypertensive Agents Phase 4,Phase 2
32 Autonomic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
33 Contraceptive Agents Phase 4
34 Estradiol 17 beta-cypionate Phase 4
35 Estradiol 3-benzoate Phase 4
36 Estradiol valerate Phase 4 979-32-8
37 Estrogens Phase 4
38 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
39 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
41 insulin Phase 4
42 Insulin, Globin Zinc Phase 4
43 Mitogens Phase 4
44 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
46 Polyestradiol phosphate Phase 4
47 Sympatholytics Phase 4
48 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Antidepressive Agents, Tricyclic Phase 4
50 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 221)
id Name Status NCT ID Phase
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
2 Assess the Effect of a Single Dose of Zolpidem, Silenor & Placebo on Arousability, Ataxia/Balance & Cognitive Performance in Healthy Volunteers Unknown status NCT02353299 Phase 4
3 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
4 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
5 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4
6 Treatment of Cerebral Toxoplasmosis in HIV/AIDS Completed NCT00367081 Phase 4
7 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4
8 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
9 Robot Assisted Gait Training in Patients With Infratentorial Stroke Recruiting NCT02680691 Phase 4
10 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127 Phase 4
11 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4
12 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
13 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3
14 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3
15 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3
16 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3
17 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
18 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3
19 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3
20 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
21 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3
22 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3
23 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3
24 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
25 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3
26 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3
27 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3
28 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3
29 A Clinical Trial for Inactivated Japanese Encephalitis Vaccine in Healthy Chinese Infants Completed NCT02367664 Phase 3
30 Postoperative Pain and Morphine Consumption After Mastectomy - Lyrica Completed NCT01391858 Phase 3
31 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
32 Oral HYCAMTIN Plus Whole Brain Radiation Therapy In Treatment Of Brain Metastases Resulting From Non-Small Lung Cancer Completed NCT00390806 Phase 3
33 Trial in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT02960893 Phase 2, Phase 3
34 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
35 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
36 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Recruiting NCT02918760 Phase 3
37 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Recruiting NCT02889302 Phase 3
38 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3
39 Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia Unknown status NCT01958177 Phase 1, Phase 2
40 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
41 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2
42 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
43 Citocoline for Treatment of FXTAS Unknown status NCT02197104 Phase 2
44 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
45 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2
46 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2
47 Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years Unknown status NCT01834664 Phase 1, Phase 2
48 Improving Hand Use in Multiple Sclerosis Unknown status NCT01081275 Phase 2
49 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
50 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2

Search NIH Clinical Center for Cerebellar Ataxia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cerebellar Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Cerebellar Ataxia

Genetic tests related to Cerebellar Ataxia:

id Genetic test Affiliating Genes
1 Hemosiderosis, Systemic, Due to Aceruloplasminemia 29

Anatomical Context for Cerebellar Ataxia

MalaCards organs/tissues related to Cerebellar Ataxia:

39
Cerebellum, Brain, Testes, Eye, Heart, T Cells, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cerebellar Ataxia:
id Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Cerebellar Ataxia

Articles related to Cerebellar Ataxia:

(show top 50) (show all 771)
id Title Authors Year
1
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. ( 28402445 )
2017
2
Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease. ( 28355318 )
2017
3
Spinal anaesthesia for a caesarean section in a patient with paraneoplastic cerebellar ataxia. ( 28515524 )
2017
4
Low-Titre GAD Antibody-Associated Late-Onset Cerebellar Ataxia with a Significant Clinical Response to Intravenous Immunoglobulin Treatment. ( 28321713 )
2017
5
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma. ( 28074147 )
2017
6
Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. ( 28237314 )
2017
7
Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. ( 28319124 )
2017
8
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. ( 28444220 )
2017
9
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
10
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene. ( 28416787 )
2017
11
Superficial bedside brain biopsy can be a safe and practical approach to confirm a rare form of prion disease in cerebellar ataxia: A case study. ( 28320192 )
2017
12
Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies. ( 28355320 )
2017
13
Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis. ( 28099568 )
2017
14
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. ( 28002403 )
2017
15
The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. ( 28166646 )
2017
16
Supporting a Youth with Cerebellar Ataxia into Adolescence. ( 28323747 )
2017
17
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. ( 28068987 )
2017
18
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
19
West Nile virus (WNV) presenting as acute cerebellar ataxia in an immunocompetent patient. ( 28377090 )
2017
20
Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos. ( 28415165 )
2017
21
Comparison of imaging using (11)C-ITMM and (18)F-FDG for the detection of cerebellar ataxia. ( 28320199 )
2017
22
Paraneoplastic cerebellar ataxia with central hypoventilation. ( 27990459 )
2017
23
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. ( 28179632 )
2017
24
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
25
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. ( 28481932 )
2017
26
Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia: Case report. ( 27861346 )
2016
27
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. ( 27109391 )
2016
28
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). ( 28007838 )
2016
29
Reversible Cerebellar Ataxia Secondary to Carcinoid Tumor. ( 27819423 )
2016
30
The interrelationship between disease severity, dynamic stability, and falls in cerebellar ataxia. ( 27159995 )
2016
31
Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series. ( 27073690 )
2016
32
Landmark Based Shape Analysis for Cerebellar Ataxia Classification and Cerebellar Atrophy Pattern Visualization. ( 27303111 )
2016
33
A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia. ( 27793482 )
2016
34
Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency. ( 27353294 )
2016
35
Contribution of Somatic and Dendritic SK Channels in the Firing Rate of Deep Cerebellar Nuclei: Implication in Cerebellar Ataxia. ( 27303600 )
2016
36
Transplantation of human induced cerebellar granular-like cells improves motor functions in a novel mouse model of cerebellar ataxia. ( 27158363 )
2016
37
Acute reversible seronegative cerebellar ataxia in a young woman with ovarian teratoma. ( 27653894 )
2016
38
Prolonged Type 1 Metabotropic Glutamate Receptor Dependent Synaptic Signaling Contributes to Spino-Cerebellar Ataxia Type 1. ( 27147646 )
2016
39
Mutation in non-coding RNA, RNU12 causes early-onset cerebellar ataxia. ( 27863452 )
2016
40
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy. ( 27896316 )
2016
41
Prevalence of Autoantibodies and the Efficacy of Immunotherapy for Autoimmune Cerebellar Ataxia. ( 26935362 )
2016
42
Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. ( 27440721 )
2016
43
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. ( 27869457 )
2016
44
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. ( 26197978 )
2016
45
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
46
Riluzole in patients with hereditary cerebellar ataxia. ( 27302351 )
2016
47
Late-Onset Langerhans Cell Histiocytosis with Cerebellar Ataxia as an Initial Symptom. ( 27920713 )
2016
48
The aetiology of Idiopathic Late Onset Cerebellar Ataxia (ILOCA): Clinical and imaging clues for a definitive diagnosis. ( 27206897 )
2016
49
A case of human immunodeficiency virus infection with cerebellar ataxia that suggested by an association with autoimmunity. ( 27010096 )
2016
50
Efficacy of oral corticosteroids therapy in anti-glutamic acid decarboxylase antibodies cerebellar ataxia. ( 27236207 )
2016

Variations for Cerebellar Ataxia

ClinVar genetic disease variations for Cerebellar Ataxia:

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh37 Chromosome 3, 148894200: 148894200
2 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh37 Chromosome 3, 148901289: 148901289
3 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh37 Chromosome 3, 148919950: 148919951
4 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh37 Chromosome 3, 148897374: 148897374
5 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh37 Chromosome 3, 148927955: 148927955
6 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh37 Chromosome 3, 148924114: 148924114
7 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh37 Chromosome 3, 148930403: 148930403
8 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh37 Chromosome 3, 148927129: 148927129
9 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh37 Chromosome 3, 148904510: 148904510
10 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh37 Chromosome 3, 148896405: 148896405
11 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh37 Chromosome 3, 148895683: 148895683
12 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh37 Chromosome 3, 148928013: 148928013
13 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh37 Chromosome 3, 148939498: 148939498
14 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh37 Chromosome 3, 148895692: 148895692
15 CP NM_000096.3(CP): c.587C> G (p.Pro196Arg) single nucleotide variant Pathogenic rs386134124 GRCh37 Chromosome 3, 148927974: 148927974
16 CP NM_000096.3(CP): c.493C> G (p.Gln165Glu) single nucleotide variant Pathogenic rs386134122 GRCh37 Chromosome 3, 148928068: 148928068
17 CP NM_000096.3(CP): c.2131C> A (p.Gln711Lys) single nucleotide variant Pathogenic rs386134130 GRCh37 Chromosome 3, 148903180: 148903180
18 CP NM_000096.3(CP): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386134155 GRCh37 Chromosome 3, 148927136: 148927136
19 CP NM_000096.3(CP): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs386134156 GRCh37 Chromosome 3, 148896379: 148896379
20 CP NM_000096.3(CP): c.848G> C (p.Trp283Ser) single nucleotide variant Pathogenic rs386134126 GRCh37 Chromosome 3, 148925338: 148925338
21 CP NM_000096.3(CP): c.1123T> C (p.Tyr375His) single nucleotide variant Pathogenic rs386134128 GRCh37 Chromosome 3, 148924040: 148924040
22 CP NM_000096.3(CP): c.1209-2A> G single nucleotide variant Pathogenic rs386134137 GRCh37 Chromosome 3, 148920030: 148920030
23 CP NM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs) duplication Pathogenic rs386134138 GRCh37 Chromosome 3, 148920027: 148920028
24 CP NM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs) deletion Pathogenic rs386134144 GRCh37 Chromosome 3, 148919979: 148919980
25 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh37 Chromosome 3, 148939433: 148939433
26 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh37 Chromosome 3, 148904520: 148904520
27 CP NM_000096.3(CP): c.1918delG (p.Asp640Ilefs) deletion Pathogenic rs386134146 GRCh37 Chromosome 3, 148904466: 148904466
28 CP NM_000096.3(CP): c.2065delC (p.Pro689Leufs) deletion Pathogenic rs386134147 GRCh37 Chromosome 3, 148904319: 148904319
29 CP NM_000096.3(CP): c.2068delG (p.Asp690Thrfs) deletion Pathogenic rs386134148 GRCh37 Chromosome 3, 148904316: 148904316
30 CP NM_000096.3(CP): c.2185delC (p.Leu729Trpfs) deletion Pathogenic rs587777922 GRCh38 Chromosome 3, 149185339: 149185339
31 CP NM_000096.3(CP): c.2482delG (p.Ala828Profs) deletion Pathogenic rs386134150 GRCh37 Chromosome 3, 148899864: 148899864
32 CP NM_000096.3(CP): c.2511dupT (p.Gly838Trpfs) duplication Pathogenic rs386134151 GRCh37 Chromosome 3, 148899835: 148899835
33 CP NM_000096.3(CP): c.2554+1G> T single nucleotide variant Pathogenic rs386134140 GRCh37 Chromosome 3, 148899791: 148899791
34 CP NM_000096.3(CP): c.2602delG (p.Gly868Glufs) deletion Pathogenic rs386134152 GRCh37 Chromosome 3, 148897402: 148897402
35 CP NM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs) deletion Pathogenic rs386134153 GRCh37 Chromosome 3, 148896390: 148896391
36 CP NM_000096.3(CP): c.2879-1G> A single nucleotide variant Pathogenic rs386134141 GRCh37 Chromosome 3, 148895767: 148895767
37 CP NM_000096.3(CP): c.2917dupA (p.Thr973Asnfs) duplication Pathogenic rs386134154 GRCh37 Chromosome 3, 148895728: 148895728
38 CP NM_000096.3(CP): c.395-1G> A single nucleotide variant Pathogenic rs386134135 GRCh37 Chromosome 3, 148928167: 148928167
39 CP NM_000096.3(CP): c.607+1G> A single nucleotide variant Pathogenic rs386134136 GRCh37 Chromosome 3, 148927953: 148927953
40 CP NM_000096.3(CP): c.2991T> G (p.His997Gln) single nucleotide variant Pathogenic rs34394958 GRCh37 Chromosome 3, 148895654: 148895654
41 CP NM_000096.3(CP): c.1679G> T (p.Cys560Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 149198401: 149198401

Copy number variations for Cerebellar Ataxia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 175895 3 4510033 4864286 Deletion ITPR1 Cerebellar ataxia
2 206750 6 146390474 146800424 Insertion GRM1 Cerebellar ataxia

Expression for Cerebellar Ataxia

Search GEO for disease gene expression data for Cerebellar Ataxia.

Pathways for Cerebellar Ataxia

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 ATXN1 ATXN2 ATXN3 ATXN7
2 10.58 CACNA1A GRID2 PRKCG

GO Terms for Cerebellar Ataxia

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

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.46 ATCAY CACNA1A PRKCG SACS
2 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
3 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

Biological processes related to Cerebellar Ataxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.16 ATXN7 SYNE1
2 response to pain GO:0048265 8.96 CACNA1A PRKCG
3 synaptic transmission, glutamatergic GO:0035249 8.62 CACNA1A GRID2

Sources for Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MeSH
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44 MGI
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48 NDF-RT
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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