Article
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Archives of neurology - 1 Feb 2010
Yu Chang-En, Bird Thomas D, Bekris Lynn M, Montine Thomas J, Leverenz James B, Steinbart Ellen, Galloway Nichole M, Feldman Howard, Woltjer Randall, Miller Carol A, Wood Elisabeth McCarty, Grossman Murray, McCluskey Leo, Clark Christopher M, Neumann Manuela, Danek Adrian, Galasko Douglas R, Arnold Steven E, Chen-Plotkin Alice, Karydas Anna, Miller Bruce L, Trojanowski John Q, Lee Virginia M-Y, Schellenberg Gerard D, Van Deerlin Vivianna M
Abstract excerpt
BACKGROUND: Mutation in the progranulin gene (GRN) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations. OBJECTIVES: To delineate the range of clinical presentations associated with GRN mutations and to define pathogenic candidacy of rare GRN variants....
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Case-Control Studies
- Female
- Gene Frequency
- Genetic Predisposition to Disease