Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PSEN1 are the most common cause of early-onset Alzheimer's disease (AD).
|
31153663 |
2020 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the mutation spectrum of EOAD and underline the clinical heterogeneity among PSEN1 and PSEN2 mutation carriers.
|
30797548 |
2020 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
|
31235344 |
2020 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a male with EOAD had a pathogenic PSEN1 mutation.
|
31391004 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease.
|
31204041 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The genotype PSEN1 G206S appeared to correlate with the phenotype of EOAD with pure cognitive problems.
|
30814350 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T).
|
31322578 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation.
|
31296348 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in exon 5 of the presenilin 1 gene (Gln222Leu) in a Chinese family with early-onset Alzheimer's disease has been reported, besides, it was predicted that the missense mutation was probably a novel pathogenic mutation that was reported for the first time in a Chinese family with early-onset Alzheimer's disease.
|
31385772 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.
|
30958370 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD).
|
31381512 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
|
30180983 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
|
29175279 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
|
30104866 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis.
|
29930232 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The subjects are carriers of the PSEN1 mutation, which leads to early onset Alzheimer's disease, but at the time of EEG acquisition in 1999, these subjects were cognitively unimpaired.
|
29562504 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2.
|
30114415 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease.
|
28448946 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 (PSEN1) mutations are the most common cause of familial early onset Alzheimer's disease (AD).
|
28550254 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The Val391Gly variation widens the number of PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture.
|
28131463 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.
|
28764909 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease.
|
27816212 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.
|
28106563 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.
|
27836335 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
|
28461250 |
2017 |