Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy
Abstract
We would like to reply to Yang et al., 2020, reporting a patient diagnosed with progressive supranuclear palsy (PSP) who carried two novel heterozygous missense variants in GRN gene. The case reported by Yang et al., raises some concerns. In summary, the study of Yang et al., reports a PSP-like phenotype in a patients carrying two missense variants in GRN gene, putatively compound heterozygous. Finally, we suggest that further analyses (including segregation analyses and plasma proganulin dosage) are warranted to draw definite conclusion about the association of these two missense variants with a PSP-like phenotype.
Fichier principal
Reply_Two_heterozygous_Progranulin_mutations_in_progressive_supranuclear_palsy_Author_version.pdf (168.06 Ko)
Télécharger le fichier
Origin | Files produced by the author(s) |
---|