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

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 ch...

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Detalles Bibliográficos
Autores principales: Ahmed, Rebekah, Guerreiro, Rita, Rohrer, Jonathan D., Guven, Gamze, Rossor, Martin N., Hardy, John, Fox, Nick C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750216/
https://www.ncbi.nlm.nih.gov/pubmed/23816250
http://dx.doi.org/10.1016/j.jns.2013.06.007
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author Ahmed, Rebekah
Guerreiro, Rita
Rohrer, Jonathan D.
Guven, Gamze
Rossor, Martin N.
Hardy, John
Fox, Nick C.
author_facet Ahmed, Rebekah
Guerreiro, Rita
Rohrer, Jonathan D.
Guven, Gamze
Rossor, Martin N.
Hardy, John
Fox, Nick C.
author_sort Ahmed, Rebekah
collection PubMed
description 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.
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spelling pubmed-37502162013-09-15 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids() Ahmed, Rebekah Guerreiro, Rita Rohrer, Jonathan D. Guven, Gamze Rossor, Martin N. Hardy, John Fox, Nick C. J Neurol Sci Short Communication 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. Elsevier 2013-09-15 /pmc/articles/PMC3750216/ /pubmed/23816250 http://dx.doi.org/10.1016/j.jns.2013.06.007 Text en © 2013 Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license
spellingShingle Short Communication
Ahmed, Rebekah
Guerreiro, Rita
Rohrer, Jonathan D.
Guven, Gamze
Rossor, Martin N.
Hardy, John
Fox, Nick C.
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title_full A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title_fullStr A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title_full_unstemmed A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title_short A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
title_sort novel a781v mutation in the csf1r gene causes hereditary diffuse leucoencephalopathy with axonal spheroids()
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750216/
https://www.ncbi.nlm.nih.gov/pubmed/23816250
http://dx.doi.org/10.1016/j.jns.2013.06.007
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