scholarly journals Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease

2008 ◽  
Vol 23 (2) ◽  
pp. 213 ◽  
Author(s):  
Hyun-Kyung Park ◽  
Duk Lyul Na ◽  
Jae-Hong Lee ◽  
Jong-Won Kim ◽  
Chang-Seok Ki
Diagnostics ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 405
Author(s):  
Eva Bagyinszky ◽  
Hyon Lee ◽  
Jung Min Pyun ◽  
Jeewon Suh ◽  
Min Ju Kang ◽  
...  

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.


2014 ◽  
Vol 35 (3) ◽  
pp. 722
Author(s):  
Parisa Azadfar ◽  
Leila Akbari ◽  
Samira Sheibani-Nia ◽  
Maryam Noroozıan ◽  
Farhad Assarzadegan ◽  
...  

2016 ◽  
Vol 12 ◽  
pp. P1033-P1033
Author(s):  
Eva Bagyinszky ◽  
Vo Van Giau ◽  
Minjung Wang ◽  
Young Ho Park ◽  
Jae Won Jang ◽  
...  

2011 ◽  
Vol 23 (8) ◽  
pp. 1317-1326 ◽  
Author(s):  
Ji Hye Yoon ◽  
Mee Kyung Suh ◽  
Yong Jeong ◽  
Hyun-Jung Ahn ◽  
So Young Moon ◽  
...  

ABSTRACTBackground: Agraphia in Korean patients may be different from agraphia in other patients who use alphabetical writing systems due to the “visuoconstructional script” characteristics of the Korean writing system, Hangul. Patients with early onset Alzheimer's disease (EOAD) have a severe degree of hypometabolism in the parietal area, which is known to be involved in processing visuospatial function. Thus, we explored the diverse error patterns manifested in writing single syllables in Korean patients with EOAD.Methods: A study sample of 35 patients with EOAD and 18 healthy controls (HC) performed a Hangul writing task. We analyzed the erroneous responses of the subjects according to visuoconstructional and linguistic characteristics. In addition, we evaluated the relationship between Hangul writing and the neuropsychological variables as well as the severity of dementia.Results: When comparing the total number of erroneous responses between EOAD and HC groups, the performances of EOAD patients were significantly worse than those of HC. EOAD patients demonstrated visuoconstructional errors even in the early stages of the disease. Severity of dementia and multiple cognitive domains such as attention, language, immediate memory, and frontal executive functions significantly correlated with the performance of Hangul writing.Conclusion: Our findings suggest that patients with EOAD exhibit not only linguistic errors but also visuoconstructional manifestations of agraphia, which are associated with cognitive impairments in the multiple domains.


2020 ◽  
Vol 85 ◽  
pp. 155.e5-155.e8 ◽  
Author(s):  
Jong Eun Park ◽  
Hee Jin Kim ◽  
Young-Eun Kim ◽  
Hyemin Jang ◽  
Soo Hyun Cho ◽  
...  

2014 ◽  
Author(s):  
Joseph P. Barsuglia ◽  
Michelle J. Mather ◽  
Hemali V. Panchal ◽  
Aditi Joshi ◽  
Elvira Jimenez ◽  
...  

2018 ◽  
Author(s):  
Natalia Acosta-Baena ◽  
Carlos Mario Lopera-Gómez ◽  
Mario César Jaramillo-Elorza ◽  
Margarita Giraldo-Chica ◽  
Mauricio Arcos-Burgos ◽  
...  

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