ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID ANDPRION PATHOLOGY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 605055
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:0002511) Alzheimer disease 10 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(OMIM) Beta-amyloid-positive senile plaques 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0006790) Cerebral cortex with spongiform changes 2 / 7739
6
(HPO:0002185) Neurofibrillary tangles 14 / 7739
7
(OMIM) Prion protein-positive senile plaques 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leuba et al. (2000) described a Swiss family whose members presented with standard clinical and neuropathologic features of Alzheimer disease (104300) and, in particular, severe neurofibrillary tangle degeneration present in the hippocampus and in several cortical areas, together ...
Molecular genetics OMIM In 5 deceased members from a Swiss family with early-onset Alzheimer disease with coexisting beta-amyloid and prion protein pathology, Leuba et al. (2000) did not identify mutations in the beta-amyloid precursor protein (104760), presenilin-1 (104311), or presenilin-2 (600759) ...