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Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy

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Huin, Vincent | Barbier, Mathieu | Durr, Alexandra | Le Ber, Isabelle

Edité par CCSD ; Oxford University Press -

International audience. 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.

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