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Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant.

Dario SaracinoSophie FerrieuxMarie Noguès-LassiailleMarion HouotAurélie FunkiewiezLeila SellamiVincent DeramecourtFlorence PasquierPhilippe CouratierJérémie ParienteAmandine GéraudieStéphane EpelbaumDavid WallonDidier HannequinOlivier MartinaudFabienne ClotAgnès CamuzatSimona BottaniDaisy RinaldiSophie AuriacombeMarie SarazinMira DidicClaire Boutoleau-BretonnièreChristel Thauvin-RobinetJulien LagardeCarole Roué-JagotFrançois SellalAudrey GabelleFrédérique Etcharry-BouyxAlexandre MorinCinzia CoppolaRichard LevyBruno DuboisAlexis BriceOlivier ColliotMaria Luisa Gorno-TempiniMarc TeichmannRaffaella MigliaccioIsabelle Le Bernull null
Published in: Neurology (2021)
This study shows that the most frequent PPA variant associated with GRN mutations is nonamyloid lvPPA, preceding nfvPPA and mixed forms, and illustrates that the language network may be affected at different levels. GRN testing is indicated for patients with PPA, whether familial or sporadic. This finding is important for upcoming GRN gene-specific therapies.
Keyphrases
  • multiple sclerosis
  • late onset
  • autism spectrum disorder
  • early onset
  • copy number
  • gene expression
  • amyotrophic lateral sclerosis