Early-onset phenotype of bi-allelic GRN mutations
We read with great interest the original article ‘Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms’ by Huin et al. (2020).Mono-allelic GRN (progranulin gene) mutations have been a well described cause of dementia (Baker et al., 2006; Galimberti et...
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) Editorial |
| Language: | English |
| Published: |
2021
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| In: |
Brain
Year: 2021, Volume: 144, Issue: 2, Pages: 1-5 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awaa414 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awaa414
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| Author Notes: | Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. Franca Jr, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Maria C. Macario, Maria R. Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stephanie Efthymiou, Reza Maroofian and Henry Houlden |
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| 520 | |a We read with great interest the original article ‘Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms’ by Huin et al. (2020).Mono-allelic GRN (progranulin gene) mutations have been a well described cause of dementia (Baker et al., 2006; Galimberti et al., 2010), pathophysiologically presumed to be linked to low progranulin levels in serum (Ghidoni et al., 2012). Only more recently have rare cases of bi-allelic GRN mutations emerged (Smith et al., 2012; Almeida et al., 2016; Faber et al., 2017; Kamate et al., 2019; Isik et al., 2020) and have been linked to ceroid neurolipofuscinoses (CLN), a rare and heterogenous group of lysosomal storage disease. Subtype CLN11, caused by bi-allelic GRN mutations, is only grossly described phenotypically as juvenile onset epilepsy, vision loss and ataxia. For the first time Huin et al. have managed to shed some light on the intriguing pathophysiological link between progranulin and lysosomal storage in neurons (Huin et al., 2020). | ||
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