TY - JOUR
T1 - Recent insights into the molecular genetics of dementia
AU - Rademakers, Rosa
AU - Rovelet-Lecrux, Anne
N1 - Funding Information:
We would like to thank the families who contributed samples that were critically important to past, present and future research. We also thank Richard Crook for preparation of Figure 2 and Dominique Campion for careful reading of the manuscript. Research in the authors’ laboratory was supported by the National Institutes of Health ( www.nih.gov ; Mayo Clinic ADRC grant P50 AG16574), the Pacific Alzheimer Research Foundation ( www.parf.ca ) and the Association for Frontotemporal dementia (AFTD; www.ftd-picks.org ).
PY - 2009/8
Y1 - 2009/8
N2 - Our understanding of the molecular genetic basis of two common neurodegenerative dementias, Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD), has greatly advanced in recent years. Progranulin mutations were identified as a major cause of FTLD and a potential susceptibility factor for other forms of dementia. In addition, through copy-number analyses of previously identified disease genes and the study of microRNA regulation in dementia, new evidence emerged to support the view that subtle variability in the expression of known disease proteins could increase the risk for sporadic forms of dementia. Finally, in late-onset AD populations, the first genome-wide association studies were performed and novel potential AD susceptibility genes reported. These exciting findings provide novel insights into the disease mechanisms underlying dementia and hold promise for the development of potential treatments.
AB - Our understanding of the molecular genetic basis of two common neurodegenerative dementias, Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD), has greatly advanced in recent years. Progranulin mutations were identified as a major cause of FTLD and a potential susceptibility factor for other forms of dementia. In addition, through copy-number analyses of previously identified disease genes and the study of microRNA regulation in dementia, new evidence emerged to support the view that subtle variability in the expression of known disease proteins could increase the risk for sporadic forms of dementia. Finally, in late-onset AD populations, the first genome-wide association studies were performed and novel potential AD susceptibility genes reported. These exciting findings provide novel insights into the disease mechanisms underlying dementia and hold promise for the development of potential treatments.
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U2 - 10.1016/j.tins.2009.05.005
DO - 10.1016/j.tins.2009.05.005
M3 - Review article
C2 - 19640594
AN - SCOPUS:68049123562
SN - 0166-2236
VL - 32
SP - 451
EP - 461
JO - Trends in neurosciences
JF - Trends in neurosciences
IS - 8
ER -