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C9ORF72 in dementia with Lewy bodies

Robinson, Andrew ; Davidson, Yvonne ; Snowden, Julie S ; Mann, David M A

Journal of neurology, neurosurgery, and psychiatry, December 2014, Vol.85(12), pp.1435-6 [Peer Reviewed Journal]

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  • Title:
    C9ORF72 in dementia with Lewy bodies
  • Author: Robinson, Andrew ; Davidson, Yvonne ; Snowden, Julie S ; Mann, David M A
  • Description: Recent studies have shown that a large hexanucleotide expansion in C9ORF72 is the most common cause of inherited Frontotemporal Lobar Degeneration (FTLD) and Motor Neuron Disease (MND).1 In pathological terms, expansion carriers show a distinctive molecular signature within the dentate gyrus granule cells and CA4 pyramidal cells of the hippocampus and granule cells of the cerebellum characterised by TDP-43-negative, but p62-positive, neuronal cytoplasmic inclusions (NCI).2 Such inclusions contain dipeptide repeat proteins (DPR)2 3 generated through non-ATG initiated translation of the expanded region of the gene.4 5 On immunohistochemistry, an equivalent pattern of immunostaining is observed employing either antibodies to p62 or DPR, and that p62 immunostaining is an effective tool for identification of pathology associated with the presence of hexanucleotide expansions in C9ORF72.2 3 In clinical terms, psychosis is one of the major clinical traits in patients with FTLD and/or MND who carry expansions in C9ORF72.6–8 Given that psychosis is also common in Dementia with Lewy bodies (DLB), we previously genetically screened 102 patients with clinically diagnosed DLB and detected an expansion in C9ORF72 in two patients.9 Consequently, we immunostained tissue sections of hippocampus and cerebellum for p62 protein from a series of 53 pathologically confirmed cases of DLB in order to ascertain to what extent expansions in C9ORF72 might be present in this disorder.
  • Is Part Of: Journal of neurology, neurosurgery, and psychiatry, December 2014, Vol.85(12), pp.1435-6
  • Identifier: E-ISSN: 1468-330X ; PMID: 24648039 Version:1 ; DOI: 10.1136/jnnp-2014-307622
  • Subjects: Dementia ; Genetics ; Lewy Body ; Lewy Body Disease -- Genetics ; Proteins -- Genetics
  • Language: English

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