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 CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.

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

GIORGIO, ELISA;BRUSCO, Alfredo;
2015

Abstract

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 CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.
JOURNAL OF ALZHEIMER'S DISEASE
47
2
319
322
www.iospress.nl
CSF1R; HDLS; leukoencephalopathy; presenile dementia; Psychiatry and Mental Health; Geriatrics and Gerontology; Clinical Psychology
Di Donato, Ilaria; Stabile, Carmen; Bianchi, Silvia; Taglia, Ilaria; Mignarri, Andrea; Salvatore, Simona; Giorgio, Elisa; Brusco, Alfredo; Simone, Isabella; Dotti, Maria Teresa; Federico, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1527755
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