ALZHEIMER DISEASE 3

General Information (adopted from Orphanet):

Synonyms, Signs: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INCLUDED
ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED
ALZHEIMER DISEASE 3, EARLY-ONSET
AD3
Number of Symptoms 32
OrphanetNr:
OMIM Id: 607822
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002186) Apraxia 22 / 7739
2
(HPO:0000708) Behavioral abnormality 212 / 7739
3
(HPO:0001288) Gait disturbance 318 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0010524) Agnosia Occasional [HPO:skoehler] 6 / 7739
7
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0002015) Dysphagia 301 / 7739
10
(HPO:0003487) Babinski sign 179 / 7739
11
(HPO:0002354) Memory impairment 63 / 7739
12
(HPO:0001285) Spastic tetraparesis 29 / 7739
13
(HPO:0001336) Myoclonus 115 / 7739
14
(HPO:0000751) Personality changes 33 / 7739
15
(HPO:0002511) Alzheimer disease 10 / 7739
16
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
17
(HPO:0001332) Dystonia 197 / 7739
18
(OMIM) Loss of attention 1 / 7739
19
(OMIM) Cortical and subcortical regions involved 1 / 7739
20
(OMIM) Alzheimer disease, early-onset 1 / 7739
21
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(HPO:0003581) Adult onset 117 / 7739
24
(OMIM) Loss of executive function 2 / 7739
25
(HPO:0002185) Neurofibrillary tangles 14 / 7739
26
(OMIM) Amyloid plaques 1 / 7739
27
(OMIM) Loss of language ability 1 / 7739
28
(HPO:0003678) Rapidly progressive 33 / 7739
29
(OMIM) Eosinophilic 'cotton wool' plaques without dense congophilic core in various brain regions 1 / 7739
30
(OMIM) Visuospatial agnosia (in a subset of patients) 1 / 7739
31
(OMIM) Social withdrawal 2 / 7739
32
(OMIM) Optic ataxia (in a subset of patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Campion et al. (1995) studied a large pedigree that included 34 subjects with early-onset progressive dementia with mean age at onset at 46 plus or minus 3.5 years and mean age at death at 52.6. Myoclonus and extrapyramidal ...
Molecular genetics OMIM Sherrington et al. (1995) identified 5 different missense mutations in the PSEN1 gene that cosegregated with early-onset familial Alzheimer disease type 3 (104311.0001-104311.0005).

Lopera et al. (1997) stated that affected members of a large Colombian kindred ...

Population genetics OMIM Yescas et al. (2006) identified a heterozygous mutation in the PSEN1 gene (A431E; 104311.0033) in affected members of 9 Mexican families with early-onset Alzheimer disease, All families were from the state of Jalisco in western Mexico, and haplotype ...