scholarly journals Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

Diagnostics ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 405
Author(s):  
Eva Bagyinszky ◽  
Hyon Lee ◽  
Jung Min Pyun ◽  
Jeewon Suh ◽  
Min Ju Kang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Positron Emission Tomography ◽  
Early Onset ◽  
Emission Tomography ◽  
Korean Patients ◽  
Positron Emission ◽  
Mri Scans ◽  
Early Onset Alzheimer’S Disease

We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C>T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer’s disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression.

Positron Emission Tomography Facilitates Diagnosis of Early-Onset Alzheimer’s Disease

2007 ◽  
Vol 59 (1-2) ◽  
pp. 31-37 ◽  
Author(s):  
Aaron M. McMurtray ◽  
Eliot Licht ◽  
Tuty Yeo ◽  
Erica Krisztal ◽  
Ronald E. Saul ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Positron Emission Tomography ◽  
Early Onset ◽  
Emission Tomography ◽  
Positron Emission ◽  
Early Onset Alzheimer’S Disease

scholarly journals Longitudinal Observation of Early-Onset Alzheimer’s Disease Dementia with Positive CSF Biomarkers/Negative Amyloid-β Positron-Emission Tomography

2021 ◽  
Vol 39 (3) ◽  
pp. 214-218
Author(s):  
Min Hye Kim ◽  
Joonho Lee ◽  
Hong Nam Kim ◽  
In Ja Shin ◽  
Keun Lee ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Positron Emission Tomography ◽  
Early Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Amyloid Β ◽  
Emission Tomography ◽  
Csf Biomarkers ◽  
Amyloid Pet ◽  
Positron Emission

We report a 61-year-old woman with clinical course for Alzheimer’s disease (AD) dementia and discordant amyloid-β positron-emission tomography (PET) and cerebrospinal fluid biomarkers. Brain magnetic resonance imaging revealed remarkable atrophy in the hippocampus. However, repeated delayed <sup>18</sup>F-flutemetamol brain amyloid PET images with 1 year-interval revealed no amyloid deposition, whereas her CSF revealed low Aβ42, high total tau and p-tau181. This discordant amyloid-β PET and CSF biomarkers in this early-onset AD dementia might be associated with her low resilience or mixed pathology.

scholarly journals Patient with frontal-variant syndrome in early-onset Alzheimer's disease

2020 ◽  
Vol 33 (2) ◽  
pp. e100173
Author(s):  
Han Cai ◽  
Su Ning ◽  
Wei Li ◽  
Xia Li ◽  
Shifu Xiao ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Final Diagnosis ◽  
Emission Tomography ◽  
Multimodal Approach ◽  
Pittsburgh Compound B ◽  
Positron Emission ◽  
Early Onset Alzheimer’S Disease ◽  
Genotype A

The clinical manifestation of frontal-variant Alzheimer’s disease (fvAD) is not typical, and it is difficult yet necessary to differentiate fvAD from frontal-variant frontal temporal dementia (fvFTD). We describe a patient with early-onset Alzheimer’s disease (AD) who presented with an fvFTD-like syndrome and apolipoprotein E ɛ3/ ɛ4 genotype. A brain amyloid imaging procedure, 11C-Pittsburgh compound B positron emission tomography (PET), supported the final diagnosis of AD. Our present case highlights the clinical variability that characterises early-onset AD. A multimodal approach is crucial when assessing rare forms of dementia.

O4-04-02: Is Alzheimer's disease with early-onset different from late-onset?: A comparison using amyloid and glucose positron emission tomography

2012 ◽  
Vol 8 (4S_Part_17) ◽  
pp. P621-P621
Author(s):  
Timo Grimmer ◽  
Marion Ortner ◽  
Alexander Drzezga ◽  
Stefan Förster ◽  
Hans Förstl ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Positron Emission Tomography ◽  
Early Onset ◽  
Late Onset ◽  
Emission Tomography ◽  
Positron Emission

scholarly journals High-contrast in-vivo imaging of tau pathologies in Alzheimer’s and non-Alzheimer’s disease tauopathies

2020 ◽  
Author(s):  
Kenji Tagai ◽  
Maiko Ono ◽  
Manabu Kubota ◽  
Soichiro Kitamura ◽  
Keisuke Takahata ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Positron Emission Tomography ◽  
Corticobasal Degeneration ◽  
Emission Tomography ◽  
High Contrast ◽  
Positron Emission ◽  
Tau Isoforms

AbstractDepositions of fibrillary tau protein aggregates are implicated in diverse tauopathies, including Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD). A panel of radiochemicals has enabled in-vivo positron emission tomography (PET) of AD tau pathologies composed of all six tau isoforms, while sensitive detection of FTLD tau inclusions, mostly consisting of tau isoforms with three or four repeat domains only, has been unsuccessful. Here, we generated an imaging probe, PM-PBB3, for capturing tau deposits with all isoform composites. In-vitro assays demonstrated the reactivity of this compound with tau pathologies in AD, four-repeat tauopathies such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), and three-repeat tauopathies represented by Pick’s disease (PiD). We could also utilize PM-PBB3 for bimodal, multiscale optical/PET imaging of a living murine tauopathy model. A subsequent clinical PET study revealed increased binding of radiolabeled 18F-PM-PBB3 in diseased patients, reflecting cortical-dominant AD and subcortical-dominant PSP tau topologies. Notably, the in-vivo reactivity of 18F-PM-PBB3 with three- and four-repeat tau lesions was strongly supported by neuropathological examinations of autopsied and biopsied brains derived from PiD, PSP and CBD patients who underwent PET scans. Finally, visual inspection of 18F-PM-PBB3-PET images was indicated to facilitate individually based identification of the neuropathological basis, composed of PSP, CBD and PiD, underlying the diverse clinical phenotypes of FTLD. Taking these findings together, we propose the new tau probe as a powerful tool for etiological, diagnostic and therapeutic PET assessments of the tau pathogenesis in AD and FTLD spectra at nonclinical and clinical levels.One Sentence SummaryWe developed a positron emission tomography probe for tau fibrils in an animal model and patients with Alzheimer’s disease and non-Alzheimer’s disease tauopathies with high contrast, enabling translational assessments of the tau pathogenesis and diagnostic evaluations of disease-specific and stage-dependent tau topologies on an individual basis.

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