Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy - Sorbonne Université
Journal Articles Brain - A Journal of Neurology Year : 2021

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.
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Dates and versions

hal-03113276 , version 1 (18-01-2021)

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Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber. Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy. Brain - A Journal of Neurology , 2021, ⟨10.1093/brain/awaa456⟩. ⟨hal-03113276⟩
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