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

TL;DR

This paper discusses the early-onset phenotype of bi-allelic GRN mutations, highlighting recent case reports that expand understanding of CLN11 and its clinical features.

Contribution

It provides a summary and commentary on recent cases of bi-allelic GRN mutations, emphasizing the need for further functional and neuropsychological studies.

Findings

Bi-allelic GRN mutations linked to early-onset neurodegenerative features.

Cognitive deterioration and epilepsy observed in reported cases.

Highlights the rarity and clinical variability of CLN11.

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.