Article
Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.
Neuro-degenerative diseases - 1 Jan 2011
Rohrer Jonathan D, Paviour Dominic, Vandrovcova Jana, Hodges John, de Silva Rohan, Rossor Martin N
Abstract excerpt
BACKGROUND: MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant frontotemporal dementia, although some patients present with parkinsonism. In a number of these cases the dominant clinical features have been consistent with a progressive supranuclear palsy (PSP) syndrome. OBJECTIVE: To describe a family with an...
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