GRN
MIM.138945
Pathology
Frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU) is caused by mutation in the GRN gene encoding progranulin (MIM.138945).
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.
References
Cruts M, Van Broeckhoven C. Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet. 2008 Apr;24(4):186-94. PMID: #18328591#