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

Journal of the Neurological Sciences

Volumn 332, Issue 1-2, 2013, Pages 141-144

  Ahmed, Rebekah ^a   Guerreiro, Rita ^b   Rohrer, Jonathan D ^a   Guven, Gamze ^c   Rossor, Martin N ^a   Hardy, John ^a   Fox, Nick C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Behavioural change; CSF1R; Dementia; Frontal dementia; HDLS; Leucoencephalopathy

Indexed keywords

ALZHEIMER DISEASE; ARTICLE; BEHAVIOR CHANGE; BRAIN ATROPHY; CORPUS CALLOSUM; CSF1R GENE; DIFFUSE AXONAL INJURY; DISEASE ASSOCIATION; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; GRAY MATTER; HUMAN; LEUKOENCEPHALOPATHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; WHITE MATTER;

BEHAVIOURAL CHANGE; CSF1R; DEMENTIA; FRONTAL DEMENTIA; HDLS; LEUCOENCEPHALOPATHY;

AGED; ALANINE; FAMILY HEALTH; FEMALE; FLUORODEOXYGLUCOSE F18; GENETIC TESTING; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; POSITRON-EMISSION TOMOGRAPHY; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; VALINE;

EID: 84881480250     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.06.007     Document Type: Article

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