Related Experiment Video
Updated: Jan 8, 2026
Determining Soil-transmitted Helminth Infection Status and Physical Fitness of School-aged Children
Published on: August 22, 2012
Public Health
Katsuya Nakamura1, Kazuki Kasuga2, Chinami Yuzawa2
1Shinshu University, Matsumoto, Nagano, Japan.
Background:
Heterozygous variants of APP, PSEN1, and PSEN2 have been reported as causative for hereditary Alzheimer's disease (AD); however, patients with PSEN2 variants are relatively rare.
Method:
We performed clinical and genetic laboratory evaluation of a patient with hereditary AD.
Result:
The patient, a 51-year-old Japanese woman, was born to non-consanguineous parents. She had a family history of young onset dementia in her mother. At age 45, her husband first noticed her amnesia, and her cognitive function gradually declined. At age 48, she was referred to our hospital. Results of neuropsychological and neuroradiological studies, including brain MRI and amyloid PET, were consistent with those of AD. By multi-gene sequencing related to AD, we identified novel heterozygous missense variants in PSEN2 (c.356T>G, p.Leu119Arg). At age 50, intravenous treatment with lecanemab was initiated.
Conclusion:
In this study, we report the first hereditary AD patient with a PSEN2 variant from Japan, and will discuss the clinical and genetic characteristics of patients with novel PSNE2 variants.
More Related Videos
09:33Visualizing Field Data Collection Procedures of Exposure and Biomarker Assessments for the Household Air Pollution Intervention Network Trial in India
Published on: December 23, 2022
07:20Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
Published on: January 28, 2014
Related Concept Videos
01:30Primary Healthcare Services
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...
01:26Levels of Health Promotion and Illness Prevention
In primary prevention, actions taken before disease onset prevent the disease from...
01:30Preventive Healthcare Services
01:26Principles of Disease Surveillance
01:17Healthcare Agencies II
Parish nursing is a growing specialty nursing profession that focuses on holistic healthcare, health promotion, and illness prevention. It blends professional nursing practice with a health ministry, focusing on health and healing within the context of a Christian community. Parish nurses serve as health educators, referral sources,...
01:26Methods Of Healthcare Delivery System
Managed Care System:
The managed care system is designed to control the cost while maintaining the quality of care. The patient's care from admission to discharge is planned by the primary care provider or the case manager, also known as the gatekeeper. In a managed care system, the number of care providers is...