Creutzfeldt-Jakob disease

General Information (adopted from Orphanet):

Synonyms, Signs: CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED
CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED
CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED
CJD
vCJD, INCLUDED
sCJD, INCLUDED
Number of Symptoms 29
OrphanetNr: 204
OMIM Id: 123400
ICD-10: A81.0
UMLs: C0022336
MeSH: D007562
MedDRA: 10011384
Snomed: 792004

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Miscellaneous movement disorder due to neurodegenerative disease
 -Rare neurologic disease
Transmissible spongiform encephalopathy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005327) Loss of facial expression 2 / 7739
2
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0001269) Hemiparesis 51 / 7739
5
(HPO:0000716) Depression 99 / 7739
6
(HPO:0000737) Irritability 93 / 7739
7
(HPO:0007076) Extrapyramidal muscular rigidity 2 / 7739
8
(HPO:0001289) Confusion 36 / 7739
9
(HPO:0000751) Personality changes 33 / 7739
10
(HPO:0000738) Hallucinations 60 / 7739
11
(HPO:0002066) Gait ataxia 327 / 7739
12
(HPO:0000739) Anxiety 67 / 7739
13
(HPO:0000746) Delusions 21 / 7739
14
(HPO:0000741) Apathy 42 / 7739
15
(HPO:0000726) Dementia 131 / 7739
16
(HPO:0002381) Aphasia 27 / 7739
17
(HPO:0002922) Increased CSF protein Rare [HPO] 27 / 7739
18
(HPO:0002354) Memory impairment 63 / 7739
19
(HPO:0001336) Myoclonus 115 / 7739
20
(OMIM) Pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation 2 / 7739
21
(OMIM) Brain PrP-immunoreactive amyloid plaques (in 10% if patients with sporadic CJD and in variant CJD) 2 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Occasionally mild elevation of CSF protein 2 / 7739
24
(HPO:0003678) Rapidly progressive 33 / 7739
25
(OMIM) Characteristic periodic EEG complexes (only in sporadic and familial CJD, not in variant CJD) 2 / 7739
26
(OMIM) Psychiatric abnormalities (more common in patients with atypical disease and slow progression) 3 / 7739
27
(OMIM) Diminished visual activity 2 / 7739
28
(OMIM) Normal cerebrospinal fluid 2 / 7739
29
(HPO:0001317) Abnormality of the cerebellum 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Zerr et al. (2009) assessed the diagnostic accuracy of brain MRI by evaluating 436 patients with sporadic Creutzfeldt-Jakob disease and 141 controls from 12 countries. The optimum diagnostic accuracy in the differential diagnosis of rapidly progressive dementia due ...
Clinical Description OMIM Jakob et al. (1950) gave a follow-up on the first reported family, in which members of 3 generations may have been affected. Male-to-male transmission was documented. Davidson and Rabiner (1940) described 3 affected sibs. Friede and Dejong (1964) ...
Genotype-Phenotype Correlations OMIM - Sporadic Creutzfeldt-Jakob Disease (sCJD)

Molecular subtypes of sCJD, as identified by Parchi et al. (1999), differ in phenotypic disease expression. The most common types, MM1 and MV1 (70%) are characterized by periodic sharp-wave complexes on ...

Molecular genetics OMIM In affected members of a family with inherited Creutzfeldt-Jakob disease, Owen et al. (1989, 1990) identified a 144-bp insertion in the PRNP gene (176640.0001). The insertion coded for 6 extra octanucleotide repeats in the N-terminal region of the ...
Population genetics OMIM Creutzfeldt-Jakob disease occurs in unusually high frequency in Chile (Masters et al., 1979). Kahana et al. (1974) described an aggregation of cases among Libyan Jews, a finding that supports the viral or the genetic hypothesis or perhaps both. ...