scholarly journals Identification of novel missense mutations (c.1156T>C and c.785T>C) in the PSEN1 gene in Chinese families with early-onset Alzheimer’s disease

2021 ◽  
Vol 4 (1) ◽  
pp. 6-13
Author(s):  
Lu Ren ◽  
Qiuyan Wang ◽  
Guowen Min ◽  
Yarong Zhao ◽  
Yang Li
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Missense Mutations ◽  
Chinese Families ◽  
Early Onset Alzheimer’S Disease ◽  
Psen1 Gene

A case of atypical early-onset Alzheimer’s disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene

2012 ◽  
Vol 34 (9) ◽  
pp. 1691-1692
Author(s):  
Sandro Marini ◽  
Giulia Lucidi ◽  
Andrea Tedde ◽  
Valentina Bessi ◽  
Benedetta Nacmias
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Missense Mutation ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease ◽  
Psen1 Gene ◽  
Exon 10

45 Missense mutations of the Presenilin I (PSI or 5182) gene in German early-onset Alzheimer's disease Patients

1996 ◽  
Vol 17 (4) ◽  
pp. S12
Author(s):  
R. Sandbrink ◽  
D. Zhang ◽  
T. Hartmann ◽  
C. Bergsdorf ◽  
K. Paliga ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Missense Mutations ◽  
Early Onset Alzheimer’S Disease

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease

2011 ◽  
Vol 496 (1) ◽  
pp. 40-42 ◽  
Author(s):  
Anna Antonell ◽  
Mircea Balasa ◽  
Rafael Oliva ◽  
Albert Lladó ◽  
Beatriz Bosch ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Gene Mutation ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease ◽  
Psen1 Gene

scholarly journals Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer’s Disease

2019 ◽  
Vol 20 (6) ◽  
pp. 1514 ◽  
Author(s):  
Vo Giau ◽  
Vorapun Senanarong ◽  
Eva Bagyinszky ◽  
Seong An ◽  
SangYun Kim
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Neuronal Degeneration ◽  
Novel Mutation ◽  
Prion Diseases ◽  
Missense Mutations ◽  
Disease Spectrum ◽  
Early Onset Alzheimer’S Disease ◽  
Next Generation Sequencing Ngs

Alzheimer’s disease (AD), Parkinson’s disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), Huntington’s disease (HD), and prion diseases have a certain degree of clinical, pathological, and molecular overlapping. Previous studies revealed that many causative mutations in AD, PD, and FTD/ALS genes could be found in clinical familial and sporadic AD. To further elucidate the missing heritability in early-onset Alzheimer’s disease (EOAD), we genetically characterized a Thai EOAD cohort by Next-Generation Sequencing (NGS) with a high depth of coverage, capturing variants in 50 previously recognized AD and other related disorders’ genes. A novel mutation, APP p.V604M, and the known causative variant, PSEN1 p.E184G, were found in two of the familiar cases. Remarkably, among 61 missense variants were additionally discovered from 21 genes out of 50 genes, six potential mutations including MAPT P513A, LRRK2 p.R1628P, TREM2 p.L211P, and CSF1R (p.P54Q and pL536V) may be considered to be probably/possibly pathogenic and risk factors for other dementia leading to neuronal degeneration. All allele frequencies of the identified missense mutations were compared to 622 control individuals. Our study provides initial evidence that AD and other neurodegenerative diseases may represent shades of the same disease spectrum, and consideration should be given to offer exactly embracing genetic testing to patients diagnosed with EOAD. Our results need to be further confirmed with a larger cohort from this area.

Missense mutations of thePS-1/S182gene in german early-onset Alzheimer's disease patients

1996 ◽  
Vol 40 (2) ◽  
pp. 265-266 ◽  
Author(s):  
Rupert Sandbrink ◽  
Dai Zhang ◽  
Konrad Beyreuther ◽  
Sibylle Schaeffer ◽  
Joachim Bauer ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Missense Mutations ◽  
Early Onset Alzheimer’S Disease

Distinct social-behavioral changes in frontotemporal dementia and early onset Alzheimer's disease

2014 ◽  
Author(s):  
Joseph P. Barsuglia ◽  
Michelle J. Mather ◽  
Hemali V. Panchal ◽  
Aditi Joshi ◽  
Elvira Jimenez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Early Onset ◽  
Behavioral Changes ◽  
Early Onset Alzheimer’S Disease

Depressive Symptoms and APOE ε2 Broad the Natural History in Presenilin-1 E280A Familial Early-Onset Alzheimer's Disease

2018 ◽  
Author(s):  
Natalia Acosta-Baena ◽  
Carlos Mario Lopera-Gómez ◽  
Mario César Jaramillo-Elorza ◽  
Margarita Giraldo-Chica ◽  
Mauricio Arcos-Burgos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Depressive Symptoms ◽  
Natural History ◽  
Early Onset ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer’s Disease

2020 ◽  
Vol 17 (5) ◽  
pp. 438-445
Author(s):  
Van Giau Vo ◽  
Jung-Min Pyun ◽  
Eva Bagyinszky ◽  
Seong S.A. An ◽  
Sang Y. Kim
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Temporal Lobe ◽  
Early Onset ◽  
Parietal Lobe ◽  
Disease Diagnosis ◽  
Random Coil ◽  
Magnetic Resonance Imaging Scan ◽  
Preclinical Ad ◽  
Early Onset Alzheimer’S Disease

Background: Presenilin 1 (PSEN1) was suggested as the most common causative gene of early onset Alzheimer’s Disease (AD). Methods: Patient who presented progressive memory decline in her 40s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using whole exome sequencing. The pathogenic nature of missense mutation and its 3D protein structure prediction were performed by in silico prediction programs. Results: A pathogenic mutation in PSEN1 (NM_000021.3: c.1027T>C p.Ala285Val), which was found in a Korean EOAD patient. Magnetic resonance imaging scan showed mild left temporal lobe atrophy. Hypometabolism appeared through 18F-fludeoxyglucose Positron Emission Tomography (FDG-PET) scanning in bilateral temporal and parietal lobe, and 18F-Florbetaben-PET (FBB-PET) showed increased amyloid deposition in bilateral frontal, parietal, temporal lobe and hence presumed preclinical AD. Protein modeling showed that the p.Ala285Val is located in the random coil region and could result in extra stress in this region, resulting in the replacement of an alanine residue with a valine. This prediction was confirmed previous in vitro studies that the p.Trp165Cys resulted in an elevated Aβ42/Aβ40 ratio in both COS-1 and HEK293 cell lines compared that of wild-type control. Conclusion: Together, the clinical characteristics and the effect of the mutation would facilitate our understanding of PSEN1 in AD pathogenesis for the disease diagnosis and treatment. Future in vivo study is needed to evaluate the role of PSEN1 p.Ala285Val mutation in AD progression.

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