Article
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Annals of neurology - 1 Sept 2006
Mukherjee Odity, Pastor Pau, Cairns Nigel J, Chakraverty Sumi, Kauwe John S K, Shears Shantia, Behrens Maria I, Budde John, Hinrichs Anthony L, Norton Joanne, Levitch Denise, Taylor-Reinwald Lisa, Gitcho Michael, Tu P-H, Tenenholz Grinberg Lea, Liscic Rajka M, Armendariz Javier, Morris John C, Goate Alison M
Abstract excerpt
OBJECTIVE: Familial autosomal dominant frontotemporal dementia with ubiquitin-positive, tau-negative inclusions in the brain linked to 17q21-22 recently has been reported to carry null mutations in the progranulin gene (PGRN). Hereditary dysphasic disinhibition dementia (HDDD) is a frontotemporal dementia with prominent changes in behavior and language deficits. A previous study found significant linkage to...
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