MCID: CRT072
MIFTS: 65

Creutzfeldt-Jakob Disease

Categories: Genetic diseases, Rare diseases, Infectious diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Creutzfeldt-Jakob Disease

MalaCards integrated aliases for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 53 12 49 50 71 13 51 40 14 69
Variant Creutzfeldt-Jakob Disease 12 49 3 14
Cjd 53 12 49 71
Creutzfeldt-Jakob Disease, Familial 53 69
Encephalopathy, Bovine Spongiform 41 69
Bovine Spongiform Encephalopathy 12 3
Creutzfeldt Jakob Disease 12 49
Creutzfeldt-Jacob Disease 12 49
Jakob-Creutzfeldt Disease 12 28
Vcjd 49 3
Creutzfeldt-Jakob Disease, Variant, Resistance to 53
New Variant Creutzfeldt-Jakob Disease 69
Inherited Creutzfeldt-Jakob Disease 55
Creutzfeldt-Jakob Disease, Sporadic 69
Creutzfeldt-Jakob Disease, Variant 53
Subacute Spongiform Encephalopathy 12
Sporadic Creutzfeldt-Jakob Disease 55
Acquired Creutzfeldt-Jakob Disease 55
Familial Creutzfeldt-Jakob Disease 51
Variant Creutzfeldt-Jacob Disease 49
Encephalopathy Bovine Spongiform 51
Transmissible Virus Dementia 12
Creutzfeldt Jacob Syndrome 12
Creutzfeldt-Jakob Syndrome 41
Creutzfeldt Jacob Disease 49
New Variant of Cjd 49
Inherited Cjd 55
Sporadic Cjd 55
Acquired Cjd 69
Variant Cjd 49
Nv-Cjd 49

Characteristics:

Orphanet epidemiological data:

55
sporadic creutzfeldt-jakob disease
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Canada),1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: adult,elderly;
inherited creutzfeldt-jakob disease
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: adult,elderly;
acquired creutzfeldt-jakob disease
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: adult,elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
mean age at onset for variant cjd is 29 years (before age 45 years)
rapid progression
mean survival 5 months
three forms of cjd: acquired (including variant), sporadic, and inherited
incidence of all forms of cjd is 0.5 to 1.5 per million per year
15% cases are familial
patients with variant cjd are homozygous for met129 polymorphism


HPO:

31
creutzfeldt-jakob disease:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Creutzfeldt-Jakob Disease

NINDS : 50 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD:  sporadic (the most common form, in which people do not have any risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation), and acquired (in which the disease is transmitted by exposure to brain and nervous system tissue, usually through certain medical procedures. A form called variant CJD can be acquired by eating meat from cattle affected by a disease similar to CJD, called bovine spongiform encephalopathy (commonly called “mad cow” disease).  Symptoms of CJD include problems with muscular coordination, personality changes including progressive and severe mental impairment, impaired vision that may lead to blindness, and involuntary muscle jerks called myoclonus.  People eventually lose the ability to move and speak and enter a coma.  Tests that help in the diagnosis of CJD include electroencephalography (which measures brain waves), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging.. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the person's brain so that it can be examined by a neurologist. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. .

MalaCards based summary : Creutzfeldt-Jakob Disease, also known as variant creutzfeldt-jakob disease, is related to gerstmann-straussler disease and genetic prion diseases, and has symptoms including seizures, myoclonus and tremor. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. The drugs Epinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are behavior/neurological and muscle

OMIM : 53 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (245300), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) (Collinge et al., 1996; Parchi et al., 2000; Hill et al., 2003). Johnson and Gibbs (1998) provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Tyler (2003) described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960. (123400)

UniProtKB/Swiss-Prot : 71 Creutzfeldt-Jakob disease: Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

NIH Rare Diseases : 49 Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible. Last updated: 7/8/2015

MedlinePlus : 40 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. Most patients die within a year. The three main categories of CJD are Sporadic CJD, which occurs for no known reason Hereditary CJD, which runs in families Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or "mad cow disease." There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this. NIH: National Institute of Neurological Disorders and Stroke

CDC : 3 BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

Related Diseases for Creutzfeldt-Jakob Disease

Diseases related to Creutzfeldt-Jakob Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 32.6 MSMB PRNP
2 genetic prion diseases 32.6 APOE PRNP
3 prion disease 31.4 ENO2 MAPT MSMB PRND PRNP RPSA
4 aphasia 31.0 APOE MAPT PRNP
5 akinetic mutism 30.8 ENO2 MAPT PRNP
6 cerebral amyloid angiopathy, cst3-related 30.7 APOE CST3 MAPT PRNP
7 cerebral hemorrhage 30.6 CST3 PRNP
8 chronic wasting disease 30.6 PRNP SPRN
9 dementia, lewy body 30.5 APOE MAPT PRNP
10 inclusion body myositis 30.2 APOE MAPT SERPINA3
11 scrapie 30.0 ENO2 MSMB PRND PRNP RPSA SPRN
12 alzheimer disease 29.8 APOE CST3 EIF2AK2 MAPT PRNP S100B
13 kuru 11.6
14 dementia 11.6
15 myoclonus 11.6
16 hydrocephalus, normal-pressure 11.2
17 cerebellar degeneration 11.2
18 encephalopathy 10.9
19 neuronitis 10.6
20 intracranial cysts 10.5 ENO2 S100B
21 bednar tumor 10.5 ENO2 S100B
22 cerebritis 10.5
23 persistent vegetative state 10.5 APOE ENO2
24 posterior cortical atrophy 10.5 APOE MAPT
25 epithelioid malignant peripheral nerve sheath tumor 10.5 ENO2 S100B
26 semantic dementia 10.5 APOE MAPT
27 middle cerebral artery infarction 10.5 ENO2 S100B
28 ossifying fibromyxoid tumor 10.5 ENO2 S100B
29 fatal familial insomnia 10.4
30 tonsillitis 10.4
31 encephalitis 10.4
32 head injury 10.4 APOE ENO2 S100B
33 traumatic brain injury 10.4 APOE ENO2 S100B
34 familial idiopathic basal ganglia calcification 10.4 APOE MAPT
35 epithelioid leiomyosarcoma 10.3 ENO2 SERPINA3
36 pineocytoma 10.3 ENO2 S100B
37 multiple sclerosis 10.3
38 ataxia and polyneuropathy, adult-onset 10.3
39 aging 10.3
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
41 corticobasal degeneration 10.3
42 spasticity 10.3
43 granular cell tumor 10.3 ENO2 S100B SERPINA3
44 supranuclear palsy, progressive, 1 10.3
45 aceruloplasminemia 10.3
46 ataxia-oculomotor apraxia 3 10.3
47 spastic paraparesis 10.3
48 classic progressive supranuclear palsy syndrome 10.3
49 alzheimer disease 2 10.2 APOE MAPT SERPINA3
50 brain injury 10.2 APOE ENO2 MAPT S100B

Comorbidity relations with Creutzfeldt-Jakob Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Creutzfeldt-Jakob Disease:



Diseases related to Creutzfeldt-Jakob Disease

Symptoms & Phenotypes for Creutzfeldt-Jakob Disease

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
myoclonus
memory loss
gait ataxia
hemiparesis
aphasia
more
HeadAndNeckFace:
loss of facial expression

NeurologicBehavioralPsychiatricManifestations:
personality changes
depression
hallucinations
irritability
anxiety
more
LaboratoryAbnormalities:
normal cerebrospinal fluid
occasionally mild elevation of csf protein


Clinical features from OMIM:

123400

Human phenotypes related to Creutzfeldt-Jakob Disease:

55 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 myoclonus 55 31 frequent (33%) Frequent (79-30%) HP:0001336
3 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
4 clumsiness 55 31 frequent (33%) Frequent (79-30%) HP:0002312
5 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
6 bradykinesia 55 31 frequent (33%) Frequent (79-30%) HP:0002067
7 personality changes 55 31 frequent (33%) Frequent (79-30%) HP:0000751
8 gait ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002066
9 emotional lability 55 31 frequent (33%) Frequent (79-30%) HP:0000712
10 chorea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002072
11 dysautonomia 55 31 frequent (33%) Frequent (79-30%) HP:0002459
12 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
13 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
14 slurred speech 55 31 frequent (33%) Frequent (79-30%) HP:0001350
15 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
16 babinski sign 55 31 frequent (33%) Frequent (79-30%) HP:0003487
17 stroke-like episode 55 31 frequent (33%) Frequent (79-30%) HP:0002401
18 dementia 55 31 frequent (33%) Frequent (79-30%) HP:0000726
19 insomnia 55 31 frequent (33%) Frequent (79-30%) HP:0100785
20 astrocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0002446
21 central nervous system degeneration 55 31 frequent (33%) Frequent (79-30%) HP:0007009
22 hypersomnia 55 31 frequent (33%) Frequent (79-30%) HP:0100786
23 confusion 55 31 frequent (33%) Frequent (79-30%) HP:0001289
24 apathy 55 31 frequent (33%) Frequent (79-30%) HP:0000741
25 increased csf protein 55 31 occasional (7.5%) Occasional (29-5%) HP:0002922
26 supranuclear gaze palsy 55 31 frequent (33%) Frequent (79-30%) HP:0000605
27 neuronal loss in central nervous system 55 31 frequent (33%) Frequent (79-30%) HP:0002529
28 trigeminal neuralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100661
29 progressive cerebellar ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0002073
30 spastic dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0002464
31 global brain atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002283
32 short attention span 55 31 frequent (33%) Frequent (79-30%) HP:0000736
33 loss of facial expression 55 31 frequent (33%) Frequent (79-30%) HP:0005327
34 diffuse spongiform leukoencephalopathy 55 31 frequent (33%) Frequent (79-30%) HP:0006943
35 progressive forgetfulness 55 31 frequent (33%) Frequent (79-30%) HP:0007017
36 progressive extrapyramidal muscular rigidity 55 31 frequent (33%) Frequent (79-30%) HP:0007158
37 focal t2 hyperintense basal ganglia lesion 55 31 frequent (33%) Frequent (79-30%) HP:0007183
38 eeg with persistent abnormal rhythmic activity 55 31 frequent (33%) Frequent (79-30%) HP:0010846
39 spastic hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0011099
40 akinetic mutism 55 31 frequent (33%) Frequent (79-30%) HP:0012672
41 poor visual behavior for age 55 31 frequent (33%) Frequent (79-30%) HP:0025152
42 senile plaques 55 31 frequent (33%) Frequent (79-30%) HP:0100256
43 delusions 55 31 occasional (7.5%) Occasional (29-5%) HP:0000746
44 abnormal pupillary function 55 31 occasional (7.5%) Occasional (29-5%) HP:0007686
45 vestibular nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0010542
46 amyloidosis of peripheral nerves 55 31 occasional (7.5%) Occasional (29-5%) HP:0100292
47 hemiparesis 31 HP:0001269
48 abnormal pyramidal signs 55 Frequent (79-30%)
49 nystagmus 55 Frequent (79-30%)
50 depression 55 Frequent (79-30%)

UMLS symptoms related to Creutzfeldt-Jakob Disease:


sleeplessness, gait ataxia, memory loss, vertigo/dizziness, personality changes, chronic pain, tremor, syncope, seizures, sciatica, pain, myoclonus, hemiparesis, headache, back pain

MGI Mouse Phenotypes related to Creutzfeldt-Jakob Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 SPRN APOE ENO2 HLA-DQB1 MAPT PRND
2 muscle MP:0005369 9.5 APOE CST3 HLA-DQB1 MAPT PRNP RARB
3 taste/olfaction MP:0005394 8.92 APOE ENO2 MAPT SNAP25

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

Drugs for Creutzfeldt-Jakob Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3 Racepinephrine Approved Phase 4 329-65-7
4 Epinephryl borate Phase 4
5 Pharmaceutical Solutions Phase 4
6 Vasoconstrictor Agents Phase 4
7
Coal tar Approved Phase 2 8007-45-2
8
Quinacrine Approved, Investigational Phase 2 83-89-6 237
9 Anthelmintics Phase 2
10 Anti-Infective Agents Phase 2
11 Antimalarials Phase 2
12 Antiparasitic Agents Phase 2
13 Antiprotozoal Agents Phase 2
14
Thrombin Approved, Investigational
15 Antibodies
16 Immunoglobulins
17 Coagulants
18 Hemostatics

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
2 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
3 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2 Quinacrine;Placebo
4 A Trial to Investigate the Relative Efficacy, Safety, and Tolerability of Octaplas LG Versus Octaplas SD Completed NCT01063595 Phase 1
5 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
6 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
7 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663 Quinacrine
8 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
9 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
10 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
11 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725

Search NIH Clinical Center for Creutzfeldt-Jakob Disease

Cochrane evidence based reviews: creutzfeldt-jakob syndrome

Genetic Tests for Creutzfeldt-Jakob Disease

Genetic tests related to Creutzfeldt-Jakob Disease:

# Genetic test Affiliating Genes
1 Jakob-Creutzfeldt Disease 28 HLA-DQB1 PRNP

Anatomical Context for Creutzfeldt-Jakob Disease

MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

38
Brain, Testes, Spinal Cord, Cerebellum, Cortex, Tonsil, Spleen

Publications for Creutzfeldt-Jakob Disease

Articles related to Creutzfeldt-Jakob Disease:

(show top 50) (show all 1005)
# Title Authors Year
1
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
2
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene. ( 29382530 )
2018
3
Iatrogenic Creutzfeldt-Jakob disease with Amyloid-I^ pathology: an international study. ( 29310723 )
2018
4
In vivo [<sup>18</sup>F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease. ( 29438042 )
2018
5
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
6
Pathological progression of genetic Creutzfeldt-Jakob disease with a PrP V180I mutation. ( 29264994 )
2018
7
Regional pattern of microgliosis in sporadic Creutzfeldt-Jakob disease in relation to phenotypic variants and disease progression. ( 29345730 )
2018
8
Creutzfeldt-Jakob disease and blood transfusion safety. ( 29359329 )
2018
9
Creutzfeldt-Jakob Disease. ( 29365304 )
2018
10
Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease. ( 29380664 )
2018
11
Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesis. ( 29357384 )
2018
12
CSF Tau supplements 14-3-3 protein detection for sporadic Creutzfeldt-Jakob disease diagnosis while transitioning to next generation diagnostics. ( 29422367 )
2018
13
Report and literature review on two cases with different kinds of Creutzfeldt-Jakob disease. ( 29399090 )
2018
14
Primary Angiitis of the Central Nervous System Mimicking Sporadic Creutzfeldt-Jakob Disease: A Case Study. ( 29369829 )
2018
15
Creutzfeldt-Jakob disease, cerebral amyloid angiopathy and AI^-related angiitis with neuropsychiatric manifestations. ( 28176535 )
2017
16
MM1-type sporadic Creutzfeldt-Jakob disease with 1-month total disease duration and early pathologic indicators. ( 28402042 )
2017
17
Serial Magnetic Resonance Imaging in Creutzfeldt-Jakob Disease: a Case Report and Literature Review. ( 28413741 )
2017
18
Supranuclear gaze palsy and horizontal ocular oscillations in Creutzfeldt-Jakob disease. ( 28808164 )
2017
19
Creutzfeldt-Jakob disease and blood transfusion: safe or not safe? ( 28782818 )
2017
20
Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and AI^42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants. ( 27886009 )
2017
21
Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs. ( 28056460 )
2017
22
Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany. ( 28598840 )
2017
23
Redefining periodic patterns on electroencephalograms of patients with sporadic Creutzfeldt-Jakob disease. ( 28319876 )
2017
24
A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder. ( 28553554 )
2017
25
Cytoskeleton-Associated Risk Modifiers Involved in Early and Rapid Progression of Sporadic Creutzfeldt-Jakob Disease. ( 28573459 )
2017
26
Amyloid- and FDG-PET in sporadic Creutzfeldt-Jakob disease: Correlation with pathological prion protein in neuropathology. ( 28509609 )
2017
27
Rapidly progressive dementia with myoclonus: Not Creutzfeldt-Jakob disease. ( 28290426 )
2017
28
Protective Effect of Val129-PrP against Bovine Spongiform Encephalopathy but not Variant Creutzfeldt-Jakob Disease. ( 28820136 )
2017
29
Cerebrospinal Fluid Levels of 14-3-3 Gamma: What Does It Tell Us About Sporadic Creutzfeldt-Jakob Disease? ( 28743115 )
2017
30
Similarities of Variant Creutzfeldt-Jakob Disease Strain in Mother and Son in Spain to UK Reference Case. ( 28820380 )
2017
31
Overlap Parasomnia Disorder in a case of Creutzfeldt-Jakob Disease. ( 28735926 )
2017
32
Diagnostic challenge of non-specific visual symptoms: consideration of Heidenhain variant of Creutzfeldt-Jakob disease. ( 28921636 )
2017
33
An Unusual Presentation of Creutzfeldt-Jakob Disease and an Example of How Hickam's Dictum and Ockham's Razor Can Both Be Right. ( 28898175 )
2017
34
A sporadic case of Creutzfeldt-Jakob disease showing unilateral hemispheric involvement on magnetic resonance imaging. ( 28664643 )
2017
35
Can Characteristic Mri Brain Substitute Invasive Lumbar Puncture Search For 14-3-3 Immunoassay For Creutzfeldt Jakob Disease? Suggestions From A Case Study ( 28335586 )
2017
36
An autopsied case of MV2KA +A C-type sporadic Creutzfeldt-Jakob disease presenting with widespread cerebral cortical involvement and Kuru plaques. ( 28568896 )
2017
37
Distribution and Quantitative Estimates of Variant Creutzfeldt-Jakob Disease Prions in Tissues of Clinical and Asymptomatic Patients. ( 28518033 )
2017
38
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
39
An autopsy case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction. ( 28703419 )
2017
40
An In Vivo (11)C-(R)-PK11195 PET and In Vitro Pathology Study of Microglia Activation in Creutzfeldt-Jakob Disease. ( 28455699 )
2017
41
Brain biopsies requiring Creutzfeldt-Jakob disease precautions in the Republic of Ireland 2005-2016. ( 28803271 )
2017
42
Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. ( 28314738 )
2017
43
Robust autophagy in optic nerves of experimental Creutzfeldt-Jakob disease and Gerstmann-StrAoussler-Scheinker disease. ( 29363902 )
2017
44
Altered Ca(2+) homeostasis induces Calpain-Cathepsin axis activation in sporadic Creutzfeldt-Jakob disease. ( 28449707 )
2017
45
A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis? ( 28680785 )
2017
46
Inhibition of IL-1I^ signaling normalizes NMDA-dependent neurotransmission and reduces seizure susceptibility in a mouse model of Creutzfeldt-Jakob disease. ( 28924012 )
2017
47
Cerebrospinal fluid real-time quaking-induced conversion test for sporadic Creutzfeldt-Jakob disease in an 18-year-old woman: A case report. ( 29310343 )
2017
48
Detection of CSF 14-3-3 Protein in Sporadic Creutzfeldt-Jakob Disease Patients Using a New Automated Capillary Western Assay. ( 28509083 )
2017
49
Creutzfeldt-Jakob disease lookback study: 21 years of surveillance for transfusion transmission risk. ( 28444687 )
2017
50
Imaging of Creutzfeldt-Jakob Disease: Imaging Patterns and Their Differential Diagnosis. ( 28076012 )
2017

Variations for Creutzfeldt-Jakob Disease

UniProtKB/Swiss-Prot genetic disease variations for Creutzfeldt-Jakob Disease:

71
# Symbol AA change Variation ID SNP ID
1 PRNP p.Asp178Asn VAR_006469 rs74315403
2 PRNP p.Val180Ile VAR_006470 rs74315408
3 PRNP p.Glu200Lys VAR_006473 rs28933385
4 PRNP p.Arg208His VAR_006474 rs74315412
5 PRNP p.Val210Ile VAR_006475 rs74315407
6 PRNP p.Met232Arg VAR_006478 rs74315409
7 PRNP p.Glu196Lys VAR_008749
8 PRNP p.Glu211Gln VAR_008752 rs398122370

ClinVar genetic disease variations for Creutzfeldt-Jakob Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant risk factor rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
3 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
4 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
5 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Pathogenic/Likely pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
6 PRNP NM_000311.4(PRNP): c.631G> C (p.Glu211Gln) single nucleotide variant Pathogenic rs398122370 GRCh37 Chromosome 20, 4680497: 4680497

Expression for Creutzfeldt-Jakob Disease

Search GEO for disease gene expression data for Creutzfeldt-Jakob Disease.

Pathways for Creutzfeldt-Jakob Disease

Pathways related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.7 APOE CST3 ENO2 MAPT PRNP S100B

GO Terms for Creutzfeldt-Jakob Disease

Cellular components related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.73 CST3 MAPT SNAP25 STMN2
2 perinuclear region of cytoplasm GO:0048471 9.7 ARF1 CST3 EIF2AK2 S100B SNAP25 STMN2
3 growth cone GO:0030426 9.63 MAPT SNAP25 STMN2
4 somatodendritic compartment GO:0036477 9.4 MAPT SNAP25
5 anchored component of external side of plasma membrane GO:0031362 9.37 PRND PRNP
6 vesicle GO:0031982 9.35 CST3 SNAP25 SPRN STMN2 YWHAG
7 amyloid-beta complex GO:0106003 9.32 APOE PRNP
8 neuronal cell body GO:0043025 9.17 APOE CST3 ENO2 MAPT RPSA S100B
9 cytoplasm GO:0005737 10.13 APOE ARF1 CST3 EIF2AK2 ENO2 MAPT

Biological processes related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuronal synaptic plasticity GO:0048168 9.37 APOE S100B
2 supramolecular fiber organization GO:0097435 9.32 CST3 MAPT
3 regulation of microtubule polymerization or depolymerization GO:0031110 9.26 MAPT STMN2
4 negative regulation of amyloid-beta formation GO:1902430 9.16 APOE PRNP
5 negative regulation of long-term synaptic potentiation GO:1900272 8.96 APOE PRNP
6 cellular copper ion homeostasis GO:0006878 8.8 ARF1 PRND PRNP

Molecular functions related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 APOE CST3 EIF2AK2 MAPT PRNP S100B
2 calcium-dependent protein binding GO:0048306 9.5 S100B SNAP25 STMN2
3 amyloid-beta binding GO:0001540 9.43 APOE CST3 PRNP
4 tau protein binding GO:0048156 9.37 APOE S100B
5 lipoprotein particle binding GO:0071813 8.96 APOE MAPT
6 tubulin binding GO:0015631 8.92 MAPT PRNP STMN2 TPPP3

Sources for Creutzfeldt-Jakob Disease

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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