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A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

Ahmed, R; Guerreiro, R; Rohrer, JD; Guven, G; Rossor, MN; Hardy, J; Fox, NC; (2013) A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences , 332 (1-2) pp. 141-144. 10.1016/j.jns.2013.06.007. Green open access

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Abstract

We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait disturbance. MRI brain showed extensive white matter change with a frontal predominance and associated atrophy in two members of the family. Genetic testing revealed a novel mutation c.2342C>T (p.A781V) in the CSF1R gene in two brothers of the family. This report highlights the difficulties in diagnosing HDLS and discusses the indications for testing for mutations in the CSF1R gene.

Type: Article
Title: A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jns.2013.06.007
Publisher version: http://dx.doi.org/10.1016/j.jns.2013.06.007
Language: English
Additional information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY NC ND), which permits distribution of the work. You may not use this work for commercial purposes or alter, transform, or build upon this work. The original author and source must be credited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1399190
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