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Comment
. 2022 May;37(5):1108-1109.
doi: 10.1002/mds.29011.

Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R-Related Leukoencephalopathy

Morten Andreas Horn  1 , Anders Eivind Myhre  2 , Trine Prescott  3 , Jan Aasly  4   5 , Christina Heidemann Sundal  6   7 , Tobias Gedde-Dahl  2   8
Affiliations
Comment

Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R-Related Leukoencephalopathy

Morten Andreas Horn et al. Mov Disord. 2022 May.
No abstract available

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Figures

FIG 1
FIG 1
Pedigree of the Norwegian family with CSF1R‐related leukoencephalopathy. Symbols: formula image = affected female, formula image = unaffected female, formula image = affected male, formula image = unaffected male, / = deceased individual, wt/wt = homozygous for wild‐type (normal) CSF1R allele, wt/mut = heterozygous for pathogenic CSF1R variant. Arrow points to individual III:2, recipient of prophylactic HSCT. Monozygotic twins II:5 and II:6 are NO‐2 and NO‐1, respectively, in Rademakers et al.2 Cause of death in all affected individuals was CSF1R‐related leukoencephalopathy: II:5 died at age 40 years, II:6 at age 41 years, III:4 at age 36 years, and III:5 at age 31 years.
See this image and copyright information in PMC

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References

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    1. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44:200–205. - PMC - PubMed
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    1. Gelfand JM, Greenfield AL, Barkovich M, et al. Allogeneic HSCT for adult‐onset leukoencephalopathy with spheroids and pigmented glia. Brain 2020;143:503–511. - PubMed