Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

@inproceedings{Mahoney2012FrontotemporalDW,
  title={Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features},
  author={Colin J. Mahoney and J Beck and Jonathan D. Rohrer and Tammaryn Lashley and Kin Y. Mok and Tim J. Shakespeare and Tom Yeatman and Elizabeth K. Warrington and Jonathan M. Schott and Nick C. Fox and Martin Rossor and John Hardy and John Collinge and Tamas R Revesz and Simon H Mead and Jason D Warren},
  booktitle={Brain : a journal of neurology},
  year={2012}
}
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 determined frontotemporal lobar degeneration ascertained at a specialist centre. Eighteen… CONTINUE READING
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