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A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

Journal of Alzheimer's disease : JAD - 1 Jan 2015

Di Donato Ilaria, Stabile Carmen, Bianchi Silvia, Taglia Ilaria, Mignarri Andrea, Salvatore Simona, Giorgio Elisa, Brusco Alfredo, Simone Isabella, Dotti Maria Teresa, Federico Antonio

Abstract excerpt

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in...

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Brain
Leukoencephalopathies
Magnetic Resonance Imaging
Mutation
Receptor, Macrophage Colony-Stimulating Factor

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PMID: 26401554
DOI: 10.3233/JAD-150097

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A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.PMID 26401554Read ↗

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