Article
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
Neurology - 10 Jul 2007
Bruni A C, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio S A M, Mirabelli M, Puccio G, Colao R, Maletta R G, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E
Abstract excerpt
BACKGROUND: Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN). OBJECTIVE: To determine the frequency of GRN mutations in a cohort of Caucasian patients with FTD without mutations in known FTD genes. METHODS:...
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