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

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...

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Bibliographic Details
Published in:Journal of the neurological sciences 2013-09, Vol.332 (1), p.141-144
Main Authors: Ahmed, Rebekah, Guerreiro, Rita, Rohrer, Jonathan D, Guven, Gamze, Rossor, Martin N, Hardy, John, Fox, Nick C
Format: Article
Language:English
Subjects:
Aged
Alanine - genetics
Behavioural change
CSF1R
Dementia
Family Health
Female
Fluorodeoxyglucose F18
Frontal dementia
Genetic Testing
HDLS
Humans
Leucoencephalopathy
Leukoencephalopathies - genetics
Magnetic Resonance Imaging
Male
Middle Aged
Mutation - genetics
Neurology
Positron-Emission Tomography
Receptor, Macrophage Colony-Stimulating Factor - genetics
Short Communication
Valine - genetics
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Summary: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.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2013.06.007