Article
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Human molecular genetics - 15 Oct 2006
Gass Jennifer, Cannon Ashley, Mackenzie Ian R, Boeve Bradley, Baker Matt, Adamson Jennifer, Crook Richard, Melquist Stacey, Kuntz Karen, Petersen Ron, Josephs Keith, Pickering-Brown Stuart M, Graff-Radford Neill, Uitti Ryan, Dickson Dennis, Wszolek Zbigniew, Gonzalez John, Beach Thomas G, Bigio Eileen, Johnson Nancy, Weintraub Sandra, Mesulam Marsel, White Charles L, Woodruff Bryan, Caselli Richard, Hsiung Ging-Yuek, Feldman Howard, Knopman Dave, Hutton Mike, Rademakers Rosa
Abstract excerpt
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of PGRN mutations in an extended population of patients with frontotemporal lobar degeneration (FTLD) (N=378). Mutations were identified in 10% of the total FTLD population and 23% of patients with a positive family history. This mutation...
Topics
- Adult
- Aged
- Aged, 80 and over
- Amyotrophic Lateral Sclerosis
- Brain Chemistry
- Dementia
- Founder Effect
- Gene Dosage