Primary progressive aphasia: ReADing the clinical GRANularity.
ALZHEIMER-S DISEASE
APHASIA
GENETICS
Journal
Practical neurology
ISSN: 1474-7766
Titre abrégé: Pract Neurol
Pays: England
ID NLM: 101130961
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
accepted:
21
05
2022
pubmed:
18
6
2022
medline:
3
12
2022
entrez:
17
6
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35710752
pii: practneurol-2022-003460
doi: 10.1136/practneurol-2022-003460
doi:
Substances chimiques
Biomarkers
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
509-514Subventions
Organisme : Medical Research Council
ID : MR/M008525/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M023664/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T046015/1
Pays : United Kingdom
Organisme : RNID
ID : PA23
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.