Hereditary diffuse leukoencephalopathy with axonal spheroids: More than just a rare disease.
Details
Serval ID
serval:BIB_A4EEBE782969
Type
Article: article from journal or magazin.
Publication sub-type
Editorial
Collection
Publications
Institution
Title
Hereditary diffuse leukoencephalopathy with axonal spheroids: More than just a rare disease.
Journal
Neurology
ISSN
1526-632X (Electronic)
ISSN-L
0028-3878
Publication state
Published
Issued date
2014
Volume
82
Number
2
Pages
102-103
Language
english
Notes
Publication types: Journal Article Publication Status: ppublishDocument Type: Editorial Material
Abstract
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a progressive white matter disease with a wide range of clinical symptoms including dementia, behavioral changes, seizures, pyramidal signs, ataxia, and parkinsonism.(1-3) Affected individuals develop symptoms in their early 40s with an average survival time of 10 years. HDLS is inherited as an autosomal dominant trait. Recently, mutations in the colony-stimulating factor 1 receptor gene (CSF-1R) were identified as the genetic cause of HDLS.(4) White matter lesions, easily demonstrated on MRI studies, involve predominantly the frontal lobes and corpus callosum with subsequent cortical atrophy. MRI abnormalities are present prior to symptom onset.(5,6) Histopathology shows widespread myelin and axon destruction with axonal dilations termed spheroids, as well as pigmented macrophages.
Pubmed
Web of science
Create date
19/02/2014 18:35
Last modification date
20/08/2019 15:10