CSF1 receptor-related leukoencephalopathy.

Chukwuocha, Ikechukwu; Ubben, Simon; O'Driscoll, Mary; Seymour, Alison

Chukwuocha, Ikechukwu; Ubben, Simon; O'Driscoll, Mary; Seymour, Alison.

Afiliación

Chukwuocha I; Neurology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK ikechukwu.chukwuocha@nhs.net.
Ubben S; Neurology, New Cross Hospital, Wolverhampton, UK.
O'Driscoll M; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Seymour A; Rehabilitation Medicine, West Park Hospital, Wolverhampton, UK.

Pract Neurol ; 2024 Sep 04.

Article en En | MEDLINE | ID: mdl-39237145

ABSTRACT

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.

Palabras clave

NEUROGENETICS; NEUROPATHOLOGY; NEUROPSYCHIATRY

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Pract Neurol Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido

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