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arXiv · 2101.08651

Reply: Early-onset phenotype of bi-allelic GRN mutations

Vincent Huin·Mathieu Barbier·Alexandra Durr·Isabelle Le Ber
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Abstract

We would like to reply to Neuray et al. who report a series of five new patients from four unrelated families with bi-allelic mutations of GRN. Their work nicely completes the few existing reports of similar cases, and refers to our recent publication describing six homozygous GRN pathogenic variant carriers with divergent phenotypes and ages at onset (Huin et al., 2020). In summary, the Letter from Neuray et al., reports valuable findings that lead to better define CLN11 due to bi-allelic GRN pathogenic variants. Despite the small sample number that does not allow statistical analysis, the authors underlined the occurrence of cognitive deterioration and epilepsy. Further study of the CLN11 families with functional brain imaging and neuropsychological examinations may be highly informative for the understanding and the clinical characterization of this rare disease.

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Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber. 2021-01-20. Reply: Early-onset phenotype of bi-allelic GRN mutations. https://doi.org/10.1093/brain%2Fawaa415

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