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Psychosis, C9ORF72 and dementia with Lewy bodies
  1. Julie S Snowden1,2,
  2. Sarah Rollinson2,3,
  3. Chloe Lafon1,2,
  4. Jennifer Harris1,2,
  5. Jennifer Thompson1,2,
  6. Anna M Richardson1,2,
  7. Matthew Jones1,2,
  8. Alexander Gerhard1,2,
  9. David Neary1,2,
  10. David M A Mann2,
  11. Stuart Pickering-Brown2,3
  1. 1Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK
  2. 2The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK
  3. 3Mental Health and Neurodegeneration Research Group, AV Hill Building, University of Manchester, Manchester, UK
  1. Correspondence to Professor Julie S Snowden, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford M6 8HD, UK; julie.snowden{at}manchester.ac.uk

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Introduction

Hexanucleotide repeat expansions in the C9ORF72 gene are an important cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis.1 ,2 Whether they have a role in other conditions remains unclear.3 ,4 We previously identified in FTD a strong association between repeat expansions in C9ORF72 and the presence of psychosis.4 This raises the question whether C9ORF72 expansions might also have a role in dementia with Lewy bodies (DLB), in which hallucinations and delusions are prevalent. The study addressed this question.

Methods

The cohort comprised 102 consecutive patients who fulfilled criteria for ‘probable DLB’, exhibiting at least two of the cardinal features: fluctuating …

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