Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.
Tandis ParviziSigrid KlotzOmar KeritamHaluk CaliskanSophie ImhofTheresa KönigLukas HaiderTatjana Traub-WeidingerMatias WagnerTheresa BrunetMelanie BruggerAlexander ZimprichJakob RathElisabeth StögmannEllen GelpíHakan CetinPublished in: Annals of clinical and translational neurology (2024)
OPTN mutations can be associated with extensive TDP-43 pathology and limbic-predominant tauopathy and present with a heterogeneous clinical phenotype within the ALS-FTD spectrum within the same family.
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