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A Novel CSF1R Mutation Mimicking Frontotemporal Dementia: A Glimpse into a Microgliopathy

Published online by Cambridge University Press:  21 June 2022

Francesco Misirocchi*
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy
Alessandro Zilioli
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy
Alberto Benussi
Affiliation:
Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
Sabina Capellari
Affiliation:
Department of Biomedical and Neuromotor Sciences, University of Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
Carlotta Mutti
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy Sleep Disorders Center, Department of Medicine and Surgery, University of Parma, Parma, Italy
Irene Florindo
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy
Marco Spallazzi
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy
Liborio Parrino
Affiliation:
Department of Medicine and Surgery, Unit of Neurology, University of Parma, Parma, Italy Sleep Disorders Center, Department of Medicine and Surgery, University of Parma, Parma, Italy
*
Corresponding author: Francesco Misirocchi, Department of Medicine and Surgery, Unit of Neurology, University of Parma, Hospital of Parma, Via Gramsci 14, Parma, 43126, Italy. Email: francesco.misirocchi@unipr.it

Abstract

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Type
Letter to the Editor: New Observation
Copyright
© The Author(s), 2022. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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Footnotes

*

Sabina Capellari’s name has been corrected. A corrigendum detailing this change has also been published (doi: 10.1017/cjn.2022.302).

References

Adams, SJ, Kirk, A, Auer, R. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). J Clin Neurosci. 2018;48:4249. doi:10.1016/j.jocn.2017.10.060 CrossRefGoogle ScholarPubMed
Konno, T, Kasanuki, K, Ikeuchi, T, Dickson, WD, Wszolek, ZK. CSF1R-related leukoencephalopathy. Neurology. 2018;91:1092–104.CrossRefGoogle ScholarPubMed
Konno, T, Yoshida, K, Mizuta, I, et al. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2018;25:142–7.CrossRefGoogle ScholarPubMed
Papapetropoulos, S, Pontius, A, Finger, E, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: review of clinical manifestations as foundations for therapeutic development. Front Neurol. 2022;12:788168.CrossRefGoogle ScholarPubMed
Zhan, FX, Zhu, ZY, Liu, Q, et al. Altered structural and functional connectivity in CSF1R-related leukoencephalopathy. Brain Imaging Behav. 2021;15:1655–66.CrossRefGoogle ScholarPubMed
Wong, JC, Chow, TW, Hazrati, L-N. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome. Dement Geriatr Cogn. 2011;32:150–8.CrossRefGoogle ScholarPubMed
Guo, L, Bertola, DR, Takanohashi, A, et al. Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation. Am J Hum Genet. 2019;104:925–35.CrossRefGoogle ScholarPubMed
Han, J, Sarlus, H, Wszolek, ZK, Karrenbauer, VD, Harris, RA. Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy. Acta Neuropathol Commun. 2020;8:217.CrossRefGoogle ScholarPubMed