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Disease onset, symptoms and mortality span a broad spectrum depending on the nature of the mutation and thus the degree of CNS hypomyelination. In the absence of an effective treatment, direct cell transplantation into the CNS to restore myelin has been tested in animal models of severe forms of the disease with failure of developmental myelination, and more recently, in severely affected patients with early disease onset due to point mutations in the PLP1 gene, and absence of myelin by MRI. In patients with a PLP1 duplication mutation, the most common cause of Pelizaeus-Merzbacher disease, the pathology is poorly defined because of a paucity of autopsy material. To address this, we examined two elderly patients with duplication of PLP1 in whom the overall syndrome, including end-stage pathology, indicated a complex disease involving dysmyelination, demyelination and axonal degeneration. Using the corresponding Plp1 transgenic mouse model, we then tested the capacity of transplanted neural stem cells to restore myelin in the context of PLP overexpression. Although developmental myelination and axonal coverage by endogenous oligodendrocytes was extensive, as assessed using electron microscopy (n\u2009=\u20093 at each of four end points) and immunostaining (n\u2009=\u20093 at each of four end points), wild-type neural precursors, transplanted into the brains of the newborn mutants, were able to effectively compete and replace the defective myelin (n\u2009=\u20092 at each of four end points). These data demonstrate the potential of neural stem cell therapies to restore normal myelination and protect axons in patients with PLP1 gene duplication mutation and further, provide proof of principle for the benefits of stem cell transplantation for other fatal leukodystrophies with \u2018normal\u2019 developmental myelination.<\/jats:p>","DOI":"10.1093\/brain\/awaa080","type":"journal-article","created":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T20:16:00Z","timestamp":1583007360000},"page":"1383-1399","source":"Crossref","is-referenced-by-count":22,"title":["Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease"],"prefix":"10.1093","volume":"143","author":[{"given":"Fredrik I","family":"Gruenenfelder","sequence":"first","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"McLaughlin","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian R","family":"Griffiths","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Garbern","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Thomson","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kuzman","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, University Clinic Leipzig, D-04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"Barrie","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"},{"name":"Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maj-lis","family":"McCulloch","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Penderis","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Stassart","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, University Clinic Leipzig, D-04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus-Armin","family":"Nave","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Experimental\u00a0Medicine, D-37075 Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3869-0962","authenticated-orcid":false,"given":"Julia M","family":"Edgar","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8TA, UK"},{"name":"Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, G12 8TA, UK"},{"name":"Max Planck Institute for Experimental\u00a0Medicine, D-37075 Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,5,18]]},"reference":[{"key":"2020081308563368400_awaa080-B1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/jnr.10561","article-title":"Genetic background determines phenotypic severity of the Plp rumpshaker mutation","volume":"72","author":"Al-Saktawi","year":"2003","journal-title":"J Neurosci Res"},{"key":"2020081308563368400_awaa080-B2","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1749-6632.1999.tb08585.x","article-title":"Distinct phenotypes associated with increasing dosage of the Plp gene: implications for CMT1A due to Pmp22 gene 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