Article Text

other Versions

PDF
Letter
C9ORF72 in Dementia with Lewy bodies
  1. Andrew Robinson,
  2. Yvonne Davidson,
  3. Julie S Snowden,
  4. David M A Mann
  1. Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, UK
  1. Correspondence to Professor David Mann, Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK; david.mann{at}manchester.ac.uk

Statistics from Altmetric.com

Introduction

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 …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.