CSF1 receptor-related leukoencephalopathy.

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Tác giả: Ikechukwu Chukwuocha, Mary O'Driscoll, Alison Seymour, Simon Ubben

Ngôn ngữ: eng

Ký hiệu phân loại: 262.924 Quinque compilationes antiquae

Thông tin xuất bản: England : Practical neurology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 699741

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.
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