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.contributor.funder	University College London	en
dc.contributor.funder	University College London Hospitals NHS Foundation Trust	en
dc.date.accessioned	2017-12-15T10:07:54Z
dc.date.available	2017-12-15T10:07:54Z
dc.date.issued	2016-04-14
dc.date.updated	2017-12-07T11:52:47Z
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.description.status	Peer reviewed	en
dc.description.version	Published Version	en
dc.format.mimetype	application/pdf	en
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.doi	10.1136/jnnp-2015-310788
dc.identifier.endpage	519	en
dc.identifier.issn	1364-6745
dc.identifier.issued	5	en
dc.identifier.journaltitle	Journal of Neurology, Neurosurgery and Psychiatry	en
dc.identifier.startpage	512	en
dc.identifier.uri	https://hdl.handle.net/10468/5178
dc.identifier.volume	87	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

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

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