Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

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dc.contributor.author Lynch, David S.
dc.contributor.author Jaunmuktane, Zane
dc.contributor.author Sheerin, Una-Marie
dc.contributor.author Phadke, Rahul
dc.contributor.author Brandner, Sebastian
dc.contributor.author Milonas, Ionnis
dc.contributor.author Dean, Andrew
dc.contributor.author Bajaj, Nin
dc.contributor.author McNicholas, Nuala
dc.contributor.author Costello, Daniel J.
dc.contributor.author Cronin, Simon
dc.contributor.author McGuigan, Chris
dc.contributor.author Rossor, Martin
dc.contributor.author Fox, Nick
dc.contributor.author Murphy, Elaine
dc.contributor.author Chataway, Jeremy
dc.contributor.author Houlden, Henry
dc.date.accessioned 2017-12-15T10:07:54Z
dc.date.available 2017-12-15T10:07:54Z
dc.date.issued 2016-04-14
dc.identifier.citation Lynch, D. S., Jaunmuktane, Z., Sheerin, U.-M., Phadke, R., Brandner, S., Milonas, I., Dean, A., Bajaj, N., McNicholas, N., Costello, D., Cronin, S., McGuigan, C., Rossor, M., Fox, N., Murphy, E., Chataway, J. and Houlden, H. (2016) ‘Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series’, Journal of Neurology, Neurosurgery and Psychiatry, 87(5), pp. 512-519. doi:10.1136/jnnp-2015-310788 en
dc.identifier.volume 87 en
dc.identifier.issued 5 en
dc.identifier.startpage 512 en
dc.identifier.endpage 519 en
dc.identifier.issn 1364-6745
dc.identifier.uri http://hdl.handle.net/10468/5178
dc.identifier.doi 10.1136/jnnp-2015-310788
dc.description.abstract Background: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has recently been found to be caused by mutations in the colony stimulating factor-1 receptor (CSF1R) gene. Methods: In this study, we sequenced the CSF1R gene in a cohort of 48 patients from the UK, Greece and Ireland with adult onset leukodystrophy of unknown cause. Results: Five pathogenic mutations were found, including three novel mutations. The presentations ranged from suspected central nervous system (CNS) vasculitis to extrapyramidal to cognitive phenotypes. The case histories and imaging are presented here, in addition to neuropathological findings from two cases with novel mutations. Conclusion: We estimate that CSF1R mutations account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adult patients presenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or dementia. en
dc.description.sponsorship University College London (Leonard Wolfson Experimental Neurology Centre; NIHR Queen Square Dementia Biomedical Research Unit); University College London Hospitals NHS Foundation Trust (Biomedical Research Centre) en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher BMJ Publishing Group Ltd. en
dc.rights © 2016, the Authors. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. en
dc.rights.uri http://creativecommons.org/licenses/by/4.0/ en
dc.subject Colony stimulating factor-1 receptor en
dc.subject CSF1R en
dc.subject Leukodystrophy en
dc.title Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother Daniel Costello, Medicine, University College Cork, Cork, Ireland. +353-21-490-3000 Email: daniel.costello@hse.ie en
dc.internal.availability Full text available en
dc.date.updated 2017-12-07T11:52:47Z
dc.description.version Published Version en
dc.internal.rssid 419941465
dc.contributor.funder University College London en
dc.contributor.funder University College London Hospitals NHS Foundation Trust en
dc.description.status Peer reviewed en
dc.identifier.journaltitle Journal of Neurology, Neurosurgery and Psychiatry en
dc.internal.copyrightchecked Yes en
dc.internal.licenseacceptance Yes en
dc.internal.IRISemailaddress Daniel.Costello@hse.ie en


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© 2016, the Authors. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. Except where otherwise noted, this item's license is described as © 2016, the Authors. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited.
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