Loss of progranulin function in frontotemporal lobar degeneration
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 )....
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Veröffentlicht in: | Trends in genetics 2008-04, Vol.24 (4), p.186-194 |
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Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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Zusammenfassung: | 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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ISSN: | 0168-9525 |
DOI: | 10.1016/j.tig.2008.01.004 |