Loss of progranulin function in frontotemporal lobar degeneration

被引:100
作者
Cruts, Marc [1 ,2 ,3 ]
Van Broeckhoven, Christine [1 ,2 ,3 ]
机构
[1] VIB, Neurodegenerat Brain Dis Grp, Dept Mol Genet, B-2610 Antwerp, Belgium
[2] Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium
[3] Univ Antwerp, B-2610 Antwerp, Belgium
关键词
D O I
10.1016/j.tig.2008.01.004
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Frontotemporal lobar degeneration (FTLD) represents a collection of neurodegenerative diseases of frontal and temporal brain regions. It has long been associated with mutations in microtubule-associated protein tau (MAPT), and more recently with loss-of-function mutations in progranulin (PGRN). Phenotypes of PGRN and MAPT mutation carriers overlap, although disease onset in PGRN carriers is a decade later. Mutations in PGRN might influence susceptibility to a wider range of neurodegenerative diseases including Alzheimer and Parkinson diseases. The recent demonstration that mutations in PGRN result in FTLD provided a novel entrance point to the molecular mechanisms leading to this disorder. The high variability in onset age and age-dependent penetrance suggests that the PGRN pathway is highly susceptible to modulating factors that might be exploited to delay the disease processes.
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收藏
页码:186 / 194
页数:9
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