International Journal of Clinical Case Reports 2024, Vol.14, No.5, 276-289 http://medscipublisher.com/index.php/ijccr 280 family history. Genetic testing revealed a novel mutation in the PSEN1 gene (p.M233L), which was not previously associated with AD. This mutation was found in several asymptomatic family members, indicating a potential risk of developing AD in the future. The discovery of this mutation prompted a comprehensive family history assessment, revealing a pattern of early-onset dementia in multiple generations (Jiang et al., 2015). Genetic counseling was provided to all at-risk family members, and some chose to undergo presymptomatic testing. Those who tested positive for the mutation were advised to adopt preventive strategies, such as cognitive training, regular physical activity, and monitoring for early signs of cognitive decline. This case highlights the critical role of genetic testing in families with a history of early-onset AD, as it allows for risk assessment, early intervention, and personalized management plans. It also underscores the need for ongoing research into the penetr ance and expressivity of novel mutations, as well as their potential interactions with other genetic and environmental risk factors. Genetic testing can empower individuals and families to make informed decisions about their health and future, potentially improving outcomes and quality of life for those at risk. 5 Cognitive Testing and Early Diagnosis 5.1 Neuropsychological assessments for early detection Neuropsychological assessments are a cornerstone of early detection and diagnosis of Alzheimer’s Disease (AD). These assessments evaluate various cognitive domains, including memory, attention, language, and executive function, which are often affected in the early stages of AD. Unlike brief cognitive screening tests, comprehensive neuropsychological assessments can provide a detailed profile of cognitive strengths and weaknesses, aiding in differentiating AD from other neurodegenerative disorders and from normal aging. They are particularly useful in identifying subtle cognitive impairments that may not be detected through routine clinical examinations or shorter screening tools (Gurevich et al., 2017). One of the primary advantages of neuropsychological testing is its ability to detect specific patterns of cognitive decline that are characteristic of AD, such as episodic memory impairment and deficits in semantic knowledge. In recent years, the integration of machine learning techniques with neuropsychological data has further enhanced the diagnostic accuracy of these assessments. For example, using a combination of traditional neuropsychological tests and machine learning algorithms, researchers have been able to differentiate early AD from other causes of cognitive impairment with high accuracy. This is particularly valuable in clinical settings where early diagnosis can lead to more effective intervention and management strategies. Despite these advancements, challenges remain, including the time and expertise required to administer these tests, as well as the variability in sensitivity and specificity across different populations (Chen, 2024). 5.2 Standardized cognitive tests: MMSE, MoCA, and others Standardized cognitive tests such as the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) are widely used in clinical practice for the early detection of Alzheimer’s Disease (AD) and other dementias. The MMSE is a brief 30-point questionnaire that assesses a range of cognitive functions including arithmetic, memory, and orientation. While it is commonly used due to its simplicity and ease of administration, its sensitivity to early-stage AD is limited, particularly in individuals with higher education levels or mild cognitive impairment (MCI) (De Roeck et al., 2019). The MoCA, developed as an alternative to the MMSE, provides a more comprehensive assessment of cognitive domains such as executive function and visuospatial abilities, which are often affected in the early stages of AD. Studies have shown that the MoCA has higher sensitivity for detecting MCI and early AD compared to the MMSE, making it a valuable tool for early diagnosis. Other cognitive tests, such as the Alzheimer’s Disease Assessment Scale-Cognitive Subscale (ADAS-Cog), are used primarily in research settings and clinical trials to assess the severity of cognitive symptoms and to monitor changes over time. While these tests provide valuable information, they are not without limitations. The specificity of these tests can vary, and false positives may occur, especially in populations with lower education levels or those with other neurological conditions. Moreover, the accuracy of these tests can be influenced by
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