OPCA
MCID: OLV001
MIFTS: 53

Olivopontocerebellar Atrophy (OPCA) malady

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Olivopontocerebellar Atrophy

Aliases & Descriptions for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 12 50 51 14 38
Olivopontocerebellar Atrophies 52 42 69
Thomas Syndrome 50 56 69
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 56
Spinocerebellar Ataxia Type 2 69
Dejerine-Thomas Syndrome 12
Wadia-Swami Syndrome 12
Thomas' Syndrome 12
Opca 50

Characteristics:

Orphanet epidemiological data:

56
thomas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Disease Ontology 12 DOID:14784
MeSH 42 D009849
NCIt 47 C84947
Orphanet 56 ORPHA3316
MESH via Orphanet 43 C536514
UMLS via Orphanet 70 C2931225
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0028968

Summaries for Olivopontocerebellar Atrophy

NIH Rare Diseases : 50 olivopontocerebellar atrophy (opca) is a term used for a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain.opca can be viewed as a finding of  several diseases, and indicates a form of progressive ataxia (abnormal or uncontrolled movements) distinguished by characteristic findings in brain imaging studies and at autopsy (pontine flattening and cerebellar  atrophy). it was traditionally divided in hereditary or genetic opca and sporadic opca. currently, most the major forms of hereditary opca refers to disorders that overlap with spinocerebellar ataxia (sca), which is a neurological disorder characterized by ataxia. the sporadic forms are considered now to be a form of multiple system atrophy (msa). opca may also occur in people with prion disorders and inherited metabolic diseases. the main symptom is clumsiness that slowly gets worse. other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. whether opca is inherited (and the inheritance pattern) depends on the underlying cause, if known. there is no cure for opca, and management aims to treat symptoms and prevent complications. last updated: 1/11/2017

MalaCards based summary : Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to olivopontocerebellar atrophy deafness and spinocerebellar ataxia 1, and has symptoms including hypertelorism, cleft palate and dolichocephaly. An important gene associated with Olivopontocerebellar Atrophy is MAP1B (Microtubule Associated Protein 1B), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. The drugs Amitriptyline and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pons, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and behavior/neurological

Disease Ontology : 12 A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has material basis in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.

NINDS : 51 Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olives.  OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated:

Wikipedia : 71 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain –... more...

Related Diseases for Olivopontocerebellar Atrophy

Diseases related to Olivopontocerebellar Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy deafness 12.0
2 spinocerebellar ataxia 1 11.8
3 multiple system atrophy 11.4
4 spinocerebellar ataxia 2 11.3
5 spinocerebellar ataxia 7 11.3
6 multiple system atrophy, cerebellar type 10.9
7 spinocerebellar ataxia, x-linked 1 10.9
8 cerebritis 10.2
9 dementia 10.1
10 ataxia 10.1
11 children's interstitial lung disease 10.1 MAP2 MBP
12 adams-oliver syndrome 4 10.1 ATXN2 ATXN7
13 cerebellar liponeurocytoma 10.1 MBP RPS27A
14 holoprosencephaly 10.1 ATXN2 ATXN7
15 retinitis 10.1
16 neuronitis 10.1
17 retinal degeneration 10.1
18 apocrine adenosis of breast 10.1 MAP2 MBP
19 charcot-marie-tooth disease, axonal, type 2l 10.1 ATXN2 ATXN7
20 bladder hepatoid adenocarcinoma 10.1 MAP2 MBP
21 epileptic encephalopathy, early infantile, 21 10.1 ATXN2 ATXN7
22 striatonigral degeneration 10.0
23 neuropathy 10.0
24 persistent vegetative state 10.0 MAP1B MAP2
25 deafness, autosomal recessive 101 10.0 RPS27A SNCA
26 lower gum cancer 10.0 RPS27A SNCA
27 hypolipoproteinemia 10.0 ATP2B3 MBP
28 cyprus facial neuromusculoskeletal syndrome 10.0 RPS27A SNCA
29 osteoporosis 10.0 ATXN2 ATXN7
30 myoclonus 10.0
31 muscular atrophy 10.0
32 adrenoleukodystrophy 10.0
33 spinal muscular atrophy 10.0
34 postauricular lymphadenitis 10.0 ATP2B3 MBP
35 hypoproteinemia, hypercatabolic 9.9 RPS27A SNCA
36 acute interstitial pneumonia 9.9 ATP2B3 ATXN2 ATXN7
37 hermansky-pudlak syndrome 3 9.9 ATP2B3 ATXN2 ATXN7
38 cerebellar ataxia 9.9
39 meier-gorlin syndrome 5 9.9 CHAT RPS27A SNCA
40 central nervous system hemangioma 9.9 MAP2 MBP
41 substance-induced psychosis 9.8 CHAT MBP SNCA
42 classic pulmonary blastoma 9.8 ATP2B3 MAP2 SNCA
43 epithelioid type angiomyolipoma 9.8 CHAT MBP SNCA
44 hemochromatosis, type 2a 9.8 ATXN2 RPS27A SNCA
45 plekhm1-related autosomal recessive osteopetrosis 9.8 ATXN2 SNCA
46 paraneoplastic syndromes 9.7
47 pick disease 9.7
48 blepharospasm 9.7
49 machado-joseph disease 9.7
50 insulin-like growth factor i 9.7

Graphical network of the top 20 diseases related to Olivopontocerebellar Atrophy:



Diseases related to Olivopontocerebellar Atrophy

Symptoms & Phenotypes for Olivopontocerebellar Atrophy

Human phenotypes related to Olivopontocerebellar Atrophy:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 cleft palate 56 32 Very frequent (99-80%) HP:0000175
3 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
4 hypoplastic left heart 56 32 Frequent (79-30%) HP:0004383
5 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
6 renal hypoplasia/aplasia 56 32 Very frequent (99-80%) HP:0008678
7 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
8 high forehead 56 32 Frequent (79-30%) HP:0000348
9 oligohydramnios 56 32 Very frequent (99-80%) HP:0001562
10 cleft upper lip 56 32 Very frequent (99-80%) HP:0000204
11 malformation of the heart and great vessels 56 Very frequent (99-80%)

UMLS symptoms related to Olivopontocerebellar Atrophy:


cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, ophthalmoplegia, bradykinesia, dysdiadochokinesis

GenomeRNAi Phenotypes related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.28 RPS27A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 ATXN7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.28 RPS27A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.28 RPS27A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.28 RPS27A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.28 RPS27A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.28 RPS27A ATXN7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.28 RPS27A

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP
2 growth/size/body region MP:0005378 9.8 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP
3 mortality/aging MP:0010768 9.7 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP
4 nervous system MP:0003631 9.5 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP
5 reproductive system MP:0005389 9.17 SNCA ATXN2 ATXN7 CHAT MAP1B MAP2

Drugs & Therapeutics for Olivopontocerebellar Atrophy

Drugs for Olivopontocerebellar Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 614)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amitriptyline Approved Phase 4 50-48-6 2160
2
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
3
Guaifenesin Approved, Vet_approved Phase 4,Phase 2 93-14-1 3516
4
Methadone Approved Phase 4 76-99-3 4095
5
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
6
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
7
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 52485-79-7 40400 644073
8
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 50-28-2 5757 53477783
9
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
10
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
11
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
12
Fosamprenavir Approved Phase 4,Phase 3 226700-79-4 131536
13
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
14
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
15
Abacavir Approved, Investigational Phase 4,Phase 3 136470-78-5 65140 441300
16
Nelfinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 159989-64-7 64143
17
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 3056-17-5 18283
18
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
19
Infliximab Approved Phase 4 170277-31-3
20
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
21
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
22
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
23
Clozapine Approved Phase 4 5786-21-0 2818
24
Sulpiride Approved Phase 4 15676-16-1 5355
25
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
26
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
27
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
28
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
29
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
30
Everolimus Approved Phase 4,Phase 2,Phase 1 159351-69-6 6442177
31
Paclitaxel Approved, Vet_approved Phase 4,Phase 3 33069-62-4 36314
32
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
33
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
34
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2 154598-52-4 64139
35
Metronidazole Approved Phase 4 443-48-1 4173
36
Rifabutin Approved Phase 4,Phase 2,Phase 3 72559-06-9 6323490
37
Hydroxyurea Approved Phase 4,Phase 3,Phase 1 127-07-1 3657
38
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
39
Glycerol Approved, Experimental Phase 4,Phase 2 56-81-5 753
40
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
41
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
42
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
43
Insulin Aspart Approved Phase 4 116094-23-6 16132418
44
Metformin Approved Phase 4 657-24-9 14219 4091
45
Suvorexant Approved Phase 4 1030377-33-3
46
Apixaban Approved Phase 4 503612-47-3 10182969
47
Chlorthalidone Approved Phase 4 77-36-1 2732
48
Spironolactone Approved Phase 4,Phase 3 1952-01-7, 52-01-7 5833
49
Acetaminophen Approved Phase 4 103-90-2 1983
50
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569

Interventional clinical trials:

(show top 50) (show all 564)
id Name Status NCT ID Phase
1 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
2 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
3 Adjunct Methadone to Decrease the Duration of Mechanical Ventilation in the Medical Intensive Care Unit Unknown status NCT02025855 Phase 4
4 Cost-effectiveness of Genotype Guided Treatment With Antiplatelet Drugs in STEMI Patients: Optimization of Treatment Unknown status NCT01761786 Phase 4
5 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4
6 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
7 Buprenorphine and Integrated HIV Care Evaluation Unknown status NCT00124358 Phase 4
8 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
9 Effects of Infliximab on Insulin Sensitivity and Beta Cell Function in Insulin Resistant Human Obesity Completed NCT00636142 Phase 4
10 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4
11 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
12 Efficacy of DBM on Fractures of the Shinbone (Tibia) Completed NCT00299052 Phase 4
13 Amisulpride Augmentation in Clozapine-unresponsive Schizophrenia Completed NCT01246232 Phase 4
14 Beluga - Clinical Observations of Automatic Algorithms for Cardiac Pacing Completed NCT00286858 Phase 4
15 Guanfacine in Children With Tic Disorders Completed NCT01547000 Phase 4
16 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
17 Endothelium, Stenting, and Antiplatelet Therapy (EST) - Clopidogrel, Prasugrel, Ticagrelor Study Completed NCT01700322 Phase 4
18 Use of In-Line Filtration in Critically Ill Children Completed NCT00209768 Phase 4
19 Leukocyte Depletion of Autologous Whole Blood Completed NCT00176124 Phase 4
20 Efficacy and Safety of Quetiapine in Treating Affective Symptoms of Patients With First-episode psychosis-a Pilot Study Completed NCT00511277 Phase 4
21 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
22 Peripheral Endothelial Function Assessment of Patients on Ticagrelor vs. Clopidogrel Who Have Undergone PCI Completed NCT02469740 Phase 4
23 Interferon Alfa Sensitivity in HIV/HCV Persons Before and After HIV Meds Completed NCT01285050 Phase 4
24 Raltegravir vs. Atazanavir in Combination With Truvada® for the Treatment of Antiretroviral naïve HIV Infected Patients Completed NCT00762892 Phase 4
25 "The Once A Day Protease Inhibitor Regimens" Completed NCT00242216 Phase 4
26 Safety Study of Once a Day ART and Opiate Substitute. Completed NCT00324688 Phase 4
27 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
28 Prospective Evaluation of Anti-retroviral Combinations for Treatment Naive, HIV Infected Persons in Resource-limited Settings Completed NCT00084136 Phase 4
29 Trichomonas Vaginalis Recurrence Among HIV+ Women Completed NCT01018095 Phase 4
30 A Study of the Safety and Effectiveness of Combination Anti-HIV Therapy in HIV-Infected Adults Completed NCT00004585 Phase 4
31 TBTC Study 23B:Intensive PK of the Nelfinavir Rifabutin Interaction in Patients With HIV-TB Completed NCT00023400 Phase 4
32 A Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients Completed NCT00005106 Phase 4
33 Safety and Effectiveness of a Combination Anti-HIV Drug Treatment Completed NCT00005018 Phase 4
34 Steroid Treatment for Hypereosinophilic Syndrome Recruiting NCT01524536 Phase 4
35 Effects on Re-endothelialisation With Bydureon Treatment in Type 2 Diabetes Subjects Recruiting NCT02621489 Phase 4
36 Vasculopathic Injury and Plasma as Endothelial Rescue in Septic Shock Trial. VIPER-Sepsis (EudraCT no. 2016-000707-81) Recruiting NCT02875236 Phase 4
37 Suvorexant in Insomnia Co-morbid With Fibromyalgia Recruiting NCT02684136 Phase 4
38 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
39 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Recruiting NCT02502981 Phase 4
40 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
41 Effect of Adaptive Servo Ventilation (ASV) on Survival and Hospital Admissions in Heart Failure Recruiting NCT01128816 Phase 4
42 Inspire® Post-Approval Study / Protocol Number 2014-001 Recruiting NCT02413970 Phase 4
43 The Development of Novel Clinical Tests to Diagnose and Monitor Asthma in Preschool Children Recruiting NCT02743663 Phase 4
44 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4
45 ADjunctive coRticosteroid trEatment iN criticAlly ilL Patients With Septic Shock Active, not recruiting NCT01448109 Phase 4
46 Handling Oxygenation Targets in the Intensive Care Unit Not yet recruiting NCT03174002 Phase 4
47 Effect of Desmopressin on the Nocturnal Micturition Frequency in Patients With Parkinson Disease Terminated NCT00806468 Phase 4
48 Comparison of Intraspinal Nerve Root Stimulation With Dorsal Column Stimulation Terminated NCT00370773 Phase 4
49 Examination of Pregabalin Access for Treatment of Indicated Pain Disorders: the ExPAND Study Terminated NCT01280747 Phase 4
50 Steroid Injection for the Treatment of Greater Trochanteric Pain Syndrome Withdrawn NCT00863889 Phase 4

Search NIH Clinical Center for Olivopontocerebellar Atrophy

Cochrane evidence based reviews: olivopontocerebellar atrophies

Genetic Tests for Olivopontocerebellar Atrophy

Anatomical Context for Olivopontocerebellar Atrophy

MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

39
Brain, Cerebellum, Pons, Eye, Heart, Cortex, Kidney

Publications for Olivopontocerebellar Atrophy

Articles related to Olivopontocerebellar Atrophy:

(show top 50) (show all 182)
id Title Authors Year
1
Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD. ( 23371366 )
2013
2
Generation of induced pluripotent stem cells from skin fibroblasts of a patient with olivopontocerebellar atrophy. ( 22301348 )
2012
3
Challenge-oriented gait and balance training in sporadic olivopontocerebellar atrophy: a case study. ( 19809395 )
2009
4
The efficacy of combined estrogen and buspirone treatment in olivopontocerebellar atrophy. ( 18466925 )
2008
5
Spinal muscular atrophy combined with sporadic olivopontocerebellar atrophy. ( 18667265 )
2008
6
Olivopontocerebellar atrophy: toward a better nosological definition. ( 16874757 )
2006
7
X-linked adrenoleukodystrophy with olivopontocerebellar atrophy. ( 16241983 )
2005
8
Cognitive affective psychosis syndrome in a patient with sporadic olivopontocerebellar atrophy. ( 15939990 )
2005
9
An autopsy case of early ("minimal change") olivopontocerebellar atrophy (multiple system atrophy-cerebellar). ( 15971057 )
2005
10
Autonomic nervous evaluation in the early stages of olivopontocerebellar atrophy. ( 16289940 )
2005
11
Olivopontocerebellar atrophy in two adult cats, sporadic cases or new genetic entity. ( 14715964 )
2004
12
Motor learning processes in a movement-scaling task in olivopontocerebellar atrophy and Parkinson's disease. ( 12898095 )
2003
13
Olivopontocerebellar atrophy presenting with stridor. ( 14651147 )
2003
14
Patterns of neuropsychological performance in multiple system atrophy compared to sporadic and hereditary olivopontocerebellar atrophy. ( 12464189 )
2002
15
Peculiar aspects of reading and writing performances in patients with olivopontocerebellar atrophy. ( 12027365 )
2002
16
Selective loss of expression of glutamate GluR2/R3 receptor subunits in cerebellar tissue from a patient with olivopontocerebellar atrophy. ( 12083339 )
2002
17
Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease. ( 12522682 )
2002
18
Associations between a cerebellar motor dysfunction scale and movement initiation and completion in olivopontocerebellar atrophy. ( 11924009 )
2001
19
Olivopontocerebellar atrophy: paraneoplastic syndrome of brain tumour? ( 10886320 )
2000
20
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. ( 10953186 )
2000
21
Preclinical impairment of the striatal dopamine transporter system in sporadic olivopontocerebellar atrophy: studied with [(123)I]beta-CIT and SPECT. ( 10601804 )
2000
22
Oxidative injury is present in Purkinje cells in patients with olivopontocerebellar atrophy. ( 10831770 )
2000
23
Amantadine hydrochloride treatment in olivopontocerebellar atrophy: a long-term follow-up study. ( 10343152 )
1999
24
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. ( 10625898 )
1999
25
A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. ( 10450843 )
1999
26
Cerebellar activation during ataxic gait in olivopontocerebellar atrophy: a PET study. ( 10589796 )
1999
27
Disappearance of rhythmic involuntary movements during sleep in a case of olivopontocerebellar atrophy. ( 10459714 )
1999
28
A case of nocturnal polyuria in olivopontocerebellar atrophy. ( 10459712 )
1999
29
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. ( 10999111 )
1999
30
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. ( 9678515 )
1998
31
Non-familial olivopontocerebellar atrophy combined with Alzheimer's disease. ( 9849805 )
1998
32
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. ( 9667610 )
1998
33
Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. ( 9796994 )
1998
34
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). ( 9836034 )
1998
35
No association between apolipoprotein E alleles and olivopontocerebellar atrophy. ( 9667788 )
1998
36
Neurobehavioral dimensions of olivopontocerebellar atrophy. ( 9672819 )
1998
37
Non-familial olivopontocerebellar atrophy combined with late onset Alzheimer's disease: a clinico-pathological case report. ( 9543332 )
1998
38
Case of the month: Familial olivopontocerebellar atrophy. Autopsy Committee of the College of American Pathologists. ( 9531223 )
1997
39
Analysis of single-joint rapid movements in patients with sporadic olivopontocerebellar atrophy. ( 9349672 )
1997
40
Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of bilateral versus unilateral cerebellar lesions. ( 9378599 )
1997
41
Cerebellar ataxia, dementia, pyramidal signs, cortical cataract of the posterior pole and a raised IgG index in a patient with a sporadic form of olivopontocerebellar atrophy. ( 9213052 )
1997
42
P300 and cerebral blood flow before and after TRH in olivopontocerebellar atrophy. ( 9522261 )
1997
43
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. ( 9343719 )
1997
44
MRI in sporadic olivopontocerebellar atrophy and striatonigral degeneration. ( 9065575 )
1997
45
Differences between multiple system atrophy and olivopontocerebellar atrophy. ( 9007105 )
1996
46
Decreased striatal monoaminergic terminals in olivopontocerebellar atrophy and multiple system atrophy demonstrated with positron emission tomography. ( 9007093 )
1996
47
Clinical and radiological features of juvenile onset olivopontocerebellar atrophy. ( 8836589 )
1996
48
Glial and neuronal cytoplasmic inclusions in familial olivopontocerebellar atrophy. ( 8957028 )
1996
49
Tracheostomy can make a difference in recurrent respiratory failure secondary to olivopontocerebellar atrophy. ( 8830454 )
1996
50
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. ( 8923302 )
1996

Variations for Olivopontocerebellar Atrophy

Expression for Olivopontocerebellar Atrophy

Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for Olivopontocerebellar Atrophy

Pathways related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 ATXN2 ATXN7 SNCA
2 11.31 MAP2 MBP SNCA

GO Terms for Olivopontocerebellar Atrophy

Cellular components related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 MAP2 MBP SNCA
2 microtubule associated complex GO:0005875 8.62 MAP1B MAP2

Biological processes related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.16 ATXN7 MAP2
2 membrane organization GO:0061024 9.13 MBP RPS27A SNCA
3 microtubule bundle formation GO:0001578 8.62 MAP1B MAP2

Molecular functions related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.13 MAP1B MAP2 SNCA
2 calmodulin binding GO:0005516 8.8 ATP2B3 MAP2 MBP

Sources for Olivopontocerebellar Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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