SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 606688
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001298) Encephalopathy 72 / 7739
2
(HPO:0000726) Dementia 131 / 7739
3
(HPO:0000751) Personality changes 33 / 7739
4
(OMIM) Parkinsonian symptoms 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Prp immunoreactivity limited to cerebellum and putamen 1 / 7739
7
(OMIM) No amyloid plaques 1 / 7739
8
(OMIM) Minimal gliosis 1 / 7739
9
(HPO:0002171) Gliosis 48 / 7739
10
(OMIM) No neurofibrillary tangles 1 / 7739
11
(OMIM) Spongiform changes 1 / 7739
12
(OMIM) Dementia, rapidly progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nitrini et al. (1997) studied a Brazilian family in which 9 members had clinically demonstrated prion disease characterized by autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The mean age at onset was 44.8 ...
Molecular genetics OMIM In a Brazilian family with spongiform encephalopathy with neuropsychiatric features, Nitrini et al. (1997) identified a mutation in the PRNP gene (176640.0022) in the proband and his affected mother.

In affected members of a family with ...