Article
Prominent phenotypic variability associated with mutations in Progranulin.
Neurobiology of aging - 1 May 2009
Kelley Brendan J, Haidar Wael, Boeve Bradley F, Baker Matt, Graff-Radford Neill R, Krefft Thomas, Frank Andrew R, Jack Clifford R, Shiung Maria, Knopman David S, Josephs Keith A, Parashos Sotirios A, Rademakers Rosa, Hutton Mike, Pickering-Brown Stuart, Adamson Jennifer, Kuntz Karen M, Dickson Dennis W, Parisi Joseph E, Smith Glenn E, Ivnik Robert J, Petersen Ronald C
Abstract excerpt
Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or without parkinsonism. We describe the prominent phenotypic variability within and among eight kindreds evaluated at Mayo Clinic Rochester and/or Mayo Clinic Jacksonville in whom mutations in PGRN were found. All available clinical, genetic, neuroimaging and neuropathologic data was reviewed. Age of onset ranged from 49 to 88 years...
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