Article
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.
Brain : a journal of neurology - 1 Mar 2012
Mahoney Colin J, Beck Jon, Rohrer Jonathan D, Lashley Tammaryn, Mok Kin, Shakespeare Tim, Yeatman Tom, Warrington Elizabeth K, Schott Jonathan M, Fox Nick C, Rossor Martin N, Hardy John, Collinge John, Revesz Tamas, Mead Simon, Warren Jason D
Abstract excerpt
An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9. Here we present a detailed retrospective clinical, neuroimaging and histopathological analysis of a C9ORF72 mutation case series in relation to other forms of genetically...
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