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Neurological rarities
Primary progressive aphasia: ReADing the clinical GRANularity
  1. Anthipa Chokesuwattanaskul1,2,3,
  2. Charles R Marshall1,4,
  3. Natasja van Harskamp5,
  4. Henry Houlden6,
  5. Jonathan D Rohrer1,
  6. Chris JD Hardy1,
  7. Jason D Warren1
  1. 1 Dementia Research Centre, UCL Queen Square Institute of Neurology, University College London, London, UK
  2. 2 Division of Neurology, Department of Internal Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand
  3. 3 Cognitive Clinical and Computational Neuroscience Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
  4. 4 Preventive Neurology Unit, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK
  5. 5 Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
  6. 6 Department of Neurogenetics, UCL Queen Square Institute of Neurology, University College London, London, UK
  1. Correspondence to Dr Jason D Warren, Dementia Research Centre, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; jason.warren{at}ucl.ac.uk

Abstract

Primary progressive aphasia remains a diagnostic challenge despite (or even because of) the increasing availability of ancillary tests and biomarkers. We present a 67-year-old man with apparently sporadic logopenic aphasia and positive Alzheimer biomarkers who was subsequently found also to have a pathogenic mutation in the progranulin gene. This was signalled by early atypical features (mild expressive agrammatism and behavioural change, rapid clinical deterioration) around the core logopenic aphasia syndrome. Each of the canonical progressive aphasia syndromes has a ‘halo’ of less typical variants that may herald alternative or additional pathologies. The accurate diagnosis of primary progressive aphasia depends on careful clinical analysis to direct investigations appropriately.

  • APHASIA
  • ALZHEIMER-S DISEASE
  • GENETICS

Data availability statement

Data are available upon reasonable request to the corresponding author.

https://doi.org/10.1136/practneurol-2022-003460

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    Data availability statement

    Data are available upon reasonable request to the corresponding author.

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    Footnotes

    • Twitter @charl_marshall, @ftdtalk

    • Correction notice This article has been corrected since it was published Online First. An author middle initial has been added.

    • Contributors AC and JDW conceptualised the study. CRM and NVH acquired and analysed clinical and neuropsychology data. AC, JDW and CJDH performed literature review, acquired and analysed clinical and neuropsychology data, and drafted the manuscript. JDW, JDR and HH edited and critically revised the manuscript for important intellectual content. All authors gave final approval of the submitted manuscript.

    • Funding The Dementia Research Centre is supported by Alzheimer's Research UK, Brain Research UK, and the Wolfson Foundation. This work was supported by the Alzheimer’s Society, Alzheimer’s Research UK and the National Institute for Health Research University College London Hospitals Biomedical Research Centre. CRM is supported by a grant from Bart’s Charity. CJDH is supported by a RNID-Dunhill Medical Trust Pauline Ashley Fellowship ((PA23) JDW receives grant support from Alzheimer’s Research UK, the Alzheimer’s Society and the National Brain Appeal (Frontotemporal Dementia Research Studentship in Memory of David Blechner). JDR is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). For the purpose of open access, the author has applied a Creative Commons Attribution (CC BY) licence to any Author Accepted Manuscript version arising.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned. Externally peer reviewed by John Baker, Truro, UK.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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