Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy

We would like to reply 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 raises some concerns. In summary, the study of reports PSP-like phenotype patients carrying gene, putatively compound heterozygous. Finally, we suggest that further analyses (including segregation and plasma proganulin dosage) are warranted draw definite conclusion about association these phenotype.