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Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Non-amyloid Logopenic Variant

dc.rights.licenseopenen_US
dc.contributor.authorSARACINO, Dario
dc.contributor.authorFERRIEUX, Sophie
dc.contributor.authorNOGUES-LASSIAILLE, Marie
dc.contributor.authorHOUOT, Marion
dc.contributor.authorFUNKIEWIEZ, Aurelie
dc.contributor.authorSELLAMI, Leila
dc.contributor.authorDERAMECOURT, Vincent
dc.contributor.authorPASQUIER, Florence
dc.contributor.authorCOURATIER, Philippe
dc.contributor.authorPARIENTE, Jeremie
dc.contributor.authorGERAUDIE, Amandine
dc.contributor.authorEPELBAUM, Stephane
dc.contributor.authorWALLON, David
dc.contributor.authorHANNEQUIN, Didier
dc.contributor.authorMARTINAUD, Olivier
dc.contributor.authorCLOT, Fabienne
dc.contributor.authorCAMUZAT, Agnes
dc.contributor.authorBOTTANI, Simona
dc.contributor.authorRINALDI, Daisy
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorAURIACOMBE, Sophie
dc.contributor.authorSARAZIN, Marie
dc.contributor.authorDIDIC, Mira
dc.contributor.authorBOUTOLEAU-BRETONNIÈRE, Claire
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorLAGARDE, Julien
dc.contributor.authorROUE-JAGOT, Carole
dc.contributor.authorSELLAL, Francois
dc.contributor.authorGABELLE, Audrey
dc.contributor.authorETCHARRY-BOUYX, Frederique
dc.contributor.authorMORIN, Alexandre
dc.contributor.authorCOPPOLA, Cinzia
dc.contributor.authorLEVY, Richard
dc.contributor.authorDUBOIS, Bruno
dc.contributor.authorBRICE, Alexis
dc.contributor.authorCOLLIOT, Olivier
dc.contributor.authorGORNO-TEMPINI, Maria Luisa
dc.contributor.authorTEICHMANN, Marc
dc.contributor.authorMIGLIACCIO, Raffaella
dc.contributor.authorLE BER, Isabelle
dc.contributor.authorFRENCH RESEARCH NETWORK ON, Ftd Ftd-Als
dc.date.accessioned2021-07-08T11:46:59Z
dc.date.available2021-07-08T11:46:59Z
dc.date.issued2021-05-12
dc.identifier.issn0028-3878en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/106465
dc.description.abstractEnOBJECTIVE: To determine relative frequencies and linguistic profiles of primary progressive aphasia (PPA) variants associated with progranulin (GRN) mutations, and study their neuroanatomical correlates. METHODS: PPA patients carrying GRN mutations (PPA-GRN) were selected amongst a national prospective research cohort of 1,696 frontotemporal dementia (FTD) patients, including 235 patients with PPA. All PPA patients with amyloid-positive CSF biomarkers were excluded. In this cross-sectional study, speech/language and cognitive profiles were characterized with standardized evaluations, and grey matter (GM) atrophy patterns using voxel-based morphometry. Comparisons were performed with controls, and sporadic PPA patients. RESULTS: Among the overall population of 235 patients, 45 (19%) carried GRN mutations. We studied 32 of these and showed that logopenic PPA (lvPPA) was the most frequent linguistic variant (13, 41%), followed by non-fluent/agrammatic (nfvPPA: 9, 28%) and mixed forms (8, 25%). Semantic variant was rather rare (2, 6%). LvPPA patients, qualified as non-amyloid-lvPPA, presented canonical logopenic deficit. Seven out of 13 had a pure form, six showed subtle additional linguistic deficits not fitting criteria for mixed PPA, hence labelled as "logopenic-spectrum variant". GM atrophy primarily involved left posterior temporal gyrus, mirroring neuroanatomical changes of amyloid-positive-lvPPA. NfvPPA patients presented agrammatism (89%) rather than apraxia of speech (11%). CONCLUSIONS: This study shows that most frequent PPA variant associated with GRN mutations is non-amyloid lvPPA, preceding nfvPPA and mixed forms, and illustrates that language network may be affected at different levels. GRN testing is indicated for PPA patients, whether familial or sporadic. This finding is important for upcoming GRN gene-specific therapies.
dc.language.isoENen_US
dc.subject.enFrontotemporal dementia
dc.subject.enDementia aphasia
dc.title.enPrimary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Non-amyloid Logopenic Variant
dc.typeArticle de revueen_US
dc.identifier.doi10.1212/wnl.0000000000012174en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed33980708en_US
bordeaux.journalNeurologyen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamSEPIAen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03281660
hal.version1
hal.date.transferred2021-07-08T11:47:05Z
hal.exporttrue
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