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

dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorGuven, Gamze
dc.contributor.authorGuerreiro, Rita
dc.contributor.authorHardy, John
dc.contributor.authorFox, Nick C.
dc.contributor.authorRossor, Martin N.
dc.contributor.authorAhmed, Rebekah
dc.date.accessioned2021-03-05T12:36:45Z
dc.date.available2021-03-05T12:36:45Z
dc.identifier.citationAhmed R., Guerreiro R., Rohrer J. D. , Guven G., Rossor M. N. , Hardy J., Fox N. C. , "A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids", JOURNAL OF THE NEUROLOGICAL SCIENCES, cilt.332, ss.141-144, 2013
dc.identifier.issn0022-510X
dc.identifier.othervv_1032021
dc.identifier.otherav_adfca169-4161-46dd-b00b-422974951b30
dc.identifier.urihttp://hdl.handle.net/20.500.12627/116086
dc.identifier.urihttps://doi.org/10.1016/j.jns.2013.06.007
dc.description.abstractWe 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. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSinirbilim ve Davranış
dc.subjectNEUROSCIENCES
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleA novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids
dc.typeMakale
dc.relation.journalJOURNAL OF THE NEUROLOGICAL SCIENCES
dc.contributor.departmentUniversity Of London , ,
dc.identifier.volume332
dc.identifier.startpage141
dc.identifier.endpage144
dc.contributor.firstauthorID87835


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