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.authorLynch, David S.
dc.contributor.authorJaunmuktane, Zane
dc.contributor.authorSheerin, Una-Marie
dc.contributor.authorPhadke, Rahul
dc.contributor.authorBrandner, Sebastian
dc.contributor.authorMilonas, Ionnis
dc.contributor.authorDean, Andrew
dc.contributor.authorBajaj, Nin
dc.contributor.authorMcNicholas, Nuala
dc.contributor.authorCostello, Daniel J.
dc.contributor.authorCronin, Simon
dc.contributor.authorMcGuigan, Chris
dc.contributor.authorRossor, Martin
dc.contributor.authorFox, Nick
dc.contributor.authorMurphy, Elaine
dc.contributor.authorChataway, Jeremy
dc.contributor.authorHoulden, Henry
dc.contributor.funderUniversity College Londonen
dc.contributor.funderUniversity College London Hospitals NHS Foundation Trusten
dc.date.accessioned2017-12-15T10:07:54Z
dc.date.available2017-12-15T10:07:54Z
dc.date.issued2016-04-14
dc.date.updated2017-12-07T11:52:47Z
dc.description.abstractBackground: 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.sponsorshipUniversity 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.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationLynch, 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-2015-310788en
dc.identifier.doi10.1136/jnnp-2015-310788
dc.identifier.endpage519en
dc.identifier.issn1364-6745
dc.identifier.issued5en
dc.identifier.journaltitleJournal of Neurology, Neurosurgery and Psychiatryen
dc.identifier.startpage512en
dc.identifier.urihttps://hdl.handle.net/10468/5178
dc.identifier.volume87en
dc.language.isoenen
dc.publisherBMJ 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.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectColony stimulating factor-1 receptoren
dc.subjectCSF1Ren
dc.subjectLeukodystrophyen
dc.titleHereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy seriesen
dc.typeArticle (peer-reviewed)en
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