Ikechukwu Chukwuocha, Simon Ubben, Mary O'Driscoll, Alison Seymour
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引用次数: 0
Abstract
A 51-year-old woman developed subacute progressive gait and cognitive difficulties, with depression and anxiety. She had psychomotor slowing, axial rigidity, fixed dystonic posturing of right hand and symmetrical generalised bradykinesia. MR brain scan identified bilateral multifocal non-enhancing high signal intensity in the frontal subcortical and periventricular areas, with corpus callosal thinning and areas of paraventricular diffusion restriction, suggesting an adult-onset leukodystrophy. Genetic analysis identified a heterogenous pathogenic variant in the colony-stimulating factor 1 receptor (CSF1R) causing this autosomal dominant leukoencephalopathy (OMIM 221820). The patient was unusual in having a CSF1R-related leukoencephalopathy without a relevant family history.
期刊介绍：
The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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