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The bvFTD phenocopy syndrome: a clinicopathological report
  1. Emma Devenney1,2,3,
  2. Shelley L Forrest4,
  3. John Xuereb5,
  4. Jillian J Kril4,
  5. John R Hodges1,6
  1. 1Neuroscience Research Australia, Sydney, New South Wales, Australia
  2. 2Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia
  3. 3Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
  4. 4Discipline of Pathology, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
  5. 5Department of Pathology, University of Cambridge, Cambridge, UK
  6. 6School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia
  1. Correspondence to Dr Emma Devenney, Neuroscience Research Australia, Randwick, Sydney, NSW 2031, Australia; e.devenney{at}neura.edu.au

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Introduction

The past few decades have seen the development of clinical and pathological diagnostic criteria for behavioural variant-frontotemporal dementia (bvFTD).1 ,2 Despite these advances, a small number of patients remain difficult to classify. These patients are almost exclusively male and are termed phenocopy cases. They show behavioural changes, and may exhibit mild frontal dysexecutive cognitive deficits identical to patients with bvFTD. In contrast to bvFTD, progression is often very slow and indolent spanning decades, and the typical frontal and temporal abnormalities on neuroimaging are lacking. Despite recognition of the phenocopy syndrome the underlying pathology has not yet been reported. We report the clinical and pathological findings in two phenocopy cases.

Case 1

A 62-year-old retired man was referred to the memory clinic in 1992 with a 4-year history of insidious behavioural changes. Problems were first apparent when he became withdrawn and agitated following a number of minor car accidents. Despite treatment for depression his behaviour deteriorated and over the ensuing few years he was disinhibited in social situations, threatened his neighbours, and began to secretly consume alcohol. He showed reduced empathy towards his wife and family. In stark contrast to his wife's reports, the patient had no insight into these problems.

His medical history was unremarkable. Similarly, there was no significant family history of neurodegenerative or psychiatric illness.

On the Addenbrooke's cognitive examination-revised (ACE-R) he scored 90/100 (normal >88/100). More detailed neuropsychological examination showed mild impairment of executive tasks. In …

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Footnotes

  • Contributors ED contributed to the conception and design of the study, interpretation of the data, and drafting and revising of the manuscript. SLF contributed to the analysis and interpretation of the data, and drafting and revising of the manuscript. JX contributed to acquisition and analysis of the data, and revising of the manuscript. JJK contributed to analysis and interpretation of the data, and revising of the manuscript. JRH contributed to conception and design of the study, acquisition and interpretation of the data, and revising of the manuscript. All the authors gave final approval of the version to be published and agreed to be accountable for all aspects of the work.

  • Funding The Cambridge Brain Bank is supported by the NIHR Cambridge Biomedical Research Centre. This work was supported by funding to Forefront, a collaborative research group dedicated to the study of frontotemporal dementia and motor neuron disease, from the National Health and Medical research Council of Australia programme grant (1037746) and the Australian Research Council Centre of Excellence in Cognition and its Disorders Memory Node (CE110001021).

  • Competing interests None declared.

  • Ethics approval Cases were collected by the Cambridge Brain Bank and recruited with informed consent. The brain donor programme holds ethics approval from the Addenbrooke's Hospital Local Ethics Committee (Cambridge). Approval for this study was obtained from the University of Sydney Human Research Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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