What is it about?
The genetic approach to the study of neurodegenerative diseases undoubtedly provided and continues to provide a significant contribution to understanding the pathogenesis, the diagnosis and the therapeutic perspectives with important ethical implications. This review provides an overview s on the genetics of dementia (in particular, Alzheimer’s disease-AD and Frontotemporal Dementia- FTD) including the major milestones in AD and FTD genetic research.
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Why is it important?
. The past ten years have provided remarkable progress in our understanding of the molecular basis of dementia. The use of next generation sequencing has led to identification of new genetic risk factors for sporadic AD and a new gene (C9orf72) for FTD, thus increasing the importance of genetics to establish the correct diagnosis of all forms of dementia
Perspectives
The identification of genetic defects has more consequences for the family than for the patient himself. In fact, it may enable estimation of the risk of dementia for family members. Although there is still no treatment to prevent or delay the disease, those at risk may require testing before the onset of symptoms in order to better prepare for the future or in light of future reproductive choices. For this reason counseling before genetic testing is very important in both patients and asymptomatic at risk family members. Guidelines and recommendations on genetic counseling procedures in patients and their relatives have been published and new algorithms for genetic testing have been provided to help the clinician
Benedetta Nacmias
Universita degli Studi di Firenze
Read the Original
This page is a summary of: Genetics of Alzheimer’s Disease and Frontotemporal Dementia, Current Molecular Medicine, October 2014, Bentham Science Publishers,
DOI: 10.2174/1566524014666141010152143.
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