NDLI: A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

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Neurogenetics : Volume 15, Issue 4, October 2014

DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

MiR-338-3p is over-expressed in blood, CFS, serum and spinal cord from sporadic amyotrophic lateral sclerosis patients

Genes and Gene Networks Implicated in Aggression Related Behaviour

A quantitative transcriptome reference map of the normal human brain

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

Acknowledgement to Referees 2013/2014

Neurogenetics : Volume 15, Issue 3, August 2014

Neurogenetics : Volume 15, Issue 2, May 2014

Neurogenetics : Volume 15, Issue 1, March 2014

Neurogenetics : Volume 14

Neurogenetics : Volume 13

Neurogenetics : Volume 12

Neurogenetics : Volume 11

Neurogenetics : Volume 10

Neurogenetics : Volume 9

Neurogenetics : Volume 8

Neurogenetics : Volume 7

Neurogenetics : Volume 6

Neurogenetics : Volume 5

Neurogenetics : Volume 4

Neurogenetics : Volume 3

Neurogenetics : Volume 2

Neurogenetics : Volume 1

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

Content Provider	Springer Nature Link
Author	La Piana, Roberta Webber, Alina Guiot, Marie Christine Cortes, Maria Brais, Bernard
Copyright Year	2014
Abstract	Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids is a neurodegenerative disease associated with mutations in the colony-stimulating factor 1 receptor gene (CSF1R). A 44-year-old woman with a 7-year history of depression presented with neurological signs and a recent cognitive decline. The diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids was suspected based on the findings of a predominant frontal leukoencephalopathy and neuroaxonal spheroids on brain biopsy. She shares with her mother a novel CSF1R exon 18 missense mutation (c.2350G > A; p.V784M). The mother has a long-standing bipolar disorder and mild multifocal white matter abnormalities in her 70s. This is the first report of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids due to this novel CSF1R missense mutation. Our report suggests that either marked intrafamilial variability or incomplete penetrance can be associated with CSF1R mutations. The observation of a small bone cyst in our patient supports the hypothesis that hereditary diffuse leukoencephalopathy with neuroaxonal spheroids and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy may belong to a spectrum of overlapping phenotypes.
Starting Page	289
Ending Page	294
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	15
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-07-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids CSF1R Intrafamilial variability Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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