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Primary progressive aphasia: ReADing the clinical GRANularity.

Anthipa ChokesuwattanaskulCharles R MarshallNatasja van HarskampHenry HouldenJonathan D RohrerChris Jd HardyJason D Warren
Published in: Practical neurology (2022)
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.
Keyphrases
  • multiple sclerosis
  • copy number
  • genome wide
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  • mild cognitive impairment