|
Abnormal conjugate eye movement
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Abnormal posture
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Abnormality of the cerebellum
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Abnormality of the outer ear
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer Disease, Early Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer's disease patients.
|
19797784 |
2010 |
|
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.
|
8837617 |
1996 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
|
29175279 |
2018 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
|
26145164 |
2015 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
|
21501661 |
2011 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
|
9833068 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
|
11561050 |
2001 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
|
12370477 |
2002 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
|
9719376 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
|
10200054 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
|
15364419 |
2004 |
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |