Genetics in degenerative dementia: current status and applicability.

Area of Science:

• Neurogenetics
• Hereditary Neurodegenerative Diseases
• Clinical Genetics

Background:

• Advances in molecular genetics have identified deterministic genes for autosomal-dominant Alzheimer disease (AD), frontotemporal dementia (FTD), and Lewy body disease (LBD).
• This progress enables pre-symptomatic genetic diagnosis, posing new challenges for genetic counseling and clinical practice.
• Growing interest in genetic testing for these adult-onset conditions necessitates a deeper understanding of associated issues.

Purpose of the Study:

• To emphasize the importance of considering genetic causes for AD, FTD, and LBD.
• To equip clinicians with essential information for translating genetic diagnoses into clinical practice.
• To identify current knowledge gaps and uncertainties requiring future research.

Main Methods:

• Systematic review of the literature on genetic etiologies of AD, FTD, and LBD.
• Analysis of the clinical implications of genetic testing for these diseases.
• Identification of challenges and future research directions in the field.

Main Results:

• The molecular definition of hereditary neurodegenerative diseases is rapidly expanding.
• Genetic testing is becoming increasingly relevant for clinical decision-making in dementia.
• Translating genetic discoveries into effective clinical practice requires further research and clinician education.

Conclusions:

• A genetic etiology should be considered in cases of AD, FTD, and LBD.
• Clinicians need updated information to effectively utilize genetic diagnostic tools.
• Addressing knowledge gaps is crucial for advancing genetic counseling and testing in neurodegenerative diseases.