Inherited 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
Inherited CJD
vCJD, INCLUDED
sCJD, INCLUDED
Number of Symptoms 25
OrphanetNr: 282166
OMIM Id: 123400
ICD-10: A81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited prion disease
 -Rare neurologic disease
Miscellaneous movement disorder due to genetic neurodegenerative disease
 -Rare genetic disease
Miscellaneous movement disorder due to neurodegenerative disease
 -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:0000741) Apathy 42 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0001269) Hemiparesis 51 / 7739
6
(HPO:0000737) Irritability 93 / 7739
7
(HPO:0000738) Hallucinations 60 / 7739
8
(HPO:0002066) Gait ataxia 327 / 7739
9
(HPO:0000746) Delusions 21 / 7739
10
(HPO:0001289) Confusion 36 / 7739
11
(HPO:0002381) Aphasia 27 / 7739
12
(HPO:0002354) Memory impairment 63 / 7739
13
(HPO:0007076) Extrapyramidal muscular rigidity 2 / 7739
14
(HPO:0000739) Anxiety 67 / 7739
15
(HPO:0000716) Depression 99 / 7739
16
(HPO:0000751) Personality changes 33 / 7739
17
(HPO:0001336) Myoclonus 115 / 7739
18
(OMIM) Brain PrP-immunoreactive amyloid plaques (in 10% if patients with sporadic CJD and in variant CJD) 2 / 7739
19
(OMIM) Pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation 2 / 7739
20
(OMIM) Normal cerebrospinal fluid 2 / 7739
21
(OMIM) Occasionally mild elevation of CSF protein 2 / 7739
22
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
23
(OMIM) Diminished visual activity 2 / 7739
24
(OMIM) Characteristic periodic EEG complexes (only in sporadic and familial CJD, not in variant CJD) 2 / 7739
25
(OMIM) Psychiatric abnormalities (more common in patients with atypical disease and slow progression) 3 / 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. ...