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.
- ALZHEIMER-S DISEASE
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Data are available upon reasonable request to the corresponding author.
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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.
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