RT Journal Article
SR Electronic
T1 Primary progressive aphasia: ReADing the clinical GRANularity
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 509
OP 514
DO 10.1136/practneurol-2022-003460
VO 22
IS 6
A1 Anthipa Chokesuwattanaskul
A1 Charles R Marshall
A1 Natasja van Harskamp
A1 Henry Houlden
A1 Jonathan D Rohrer
A1 Chris JD Hardy
A1 Jason D Warren
YR 2022
UL http://pn.bmj.com/content/22/6/509.abstract
AB 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.Data are available upon reasonable request to the corresponding author.