Article
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Brain : a journal of neurology - 1 Mar 2008
Pickering-Brown Stuart M, Rollinson Sara, Du Plessis Daniel, Morrison Karen E, Varma Anoop, Richardson Anna M T, Neary David, Snowden Julie S, Mann David M A
Abstract excerpt
Two hundred and twenty-three consecutive patients fulfilling clinical diagnostic criteria for frontotemporal lobar degeneration (FTLD), and 259 patients with motor neuron disease (MND), for whom genomic DNA was available, were investigated for the presence of mutations in tau (MAPT) and progranulin (PGRN) genes. All FTLD patients had undergone longitudinal neuropsychological and clinical assessment, and in 44...
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