期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 332, 期 1-2, 页码 141-144出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2013.06.007
关键词
CSF1R; HDLS; Leucoencephalopathy; Dementia; Frontal dementia; Behavioural change
资金
- Alzheimer's Research UK
- Brain Research Trust
- NIHR Queen Square Dementia BRU
- MRC Senior Fellowship
- MRC [G0601846] Funding Source: UKRI
- Alzheimers Research UK [ARUK-TRFUS2012-3, ART-EG2010B-1] Funding Source: researchfish
- Medical Research Council [G0601846] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0508-10123, NF-SI-0512-10033] Funding Source: researchfish
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. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.
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