Article
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.
Brain : a journal of neurology - 1 Mar 2012
Whitwell Jennifer L, Weigand Stephen D, Boeve Bradley F, Senjem Matthew L, Gunter Jeffrey L, DeJesus-Hernandez Mariely, Rutherford Nicola J, Baker Matthew, Knopman David S, Wszolek Zbigniew K, Parisi Joseph E, Dickson Dennis W, Petersen Ronald C, Rademakers Rosa, Jack Clifford R, Josephs Keith A
Abstract excerpt
A major recent discovery was the identification of an expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Mutations in two other genes are known to account for familial frontotemporal dementia: microtubule-associated protein tau and progranulin. Although imaging features have been previously reported in subjects...
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