MeSH Browser

MeSH Supplementary: Hereditary Diffuse Leukoencephalopathy with Spheroids
Unique ID: C580150
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C580150
Entry Term(s): Adult-Onset Leukodystrophy with Neuroaxonal Spheroids; Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids; Dementia, Familial, Neumann Type; Gliosis, Familial Progressive Subcortical; Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids; Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant; Leukoencephalopathy, Diffuse Hereditary, With Spheroids; Neuroaxonal Leukodystrophy; Subcortical Gliosis of Neumann
Registry Number: 0
Heading Mapped to: *Leukoencephalopathies
Frequency: 82
Note: A hereditary, autosomal dominant, adult-onset, rapidly progressive NEURODEGENERATIVE DISORDER characterized by variable behavioral, cognitive, and motor changes. Patients often die of DEMENTIA within 6 years of onset. NEUROIMAGING shows patchy abnormalities in the cerebral WHITE MATTER, predominantly affecting the FRONTAL LOBE and PARIETAL LOBE. Mutations in the CSF1R gene have been identified. OMIM: 221820
Date of Entry: 2013/10/24
Revision Date: 2016/07/07

Hereditary Diffuse Leukoencephalopathy with Spheroids MeSH Supplementary Concept Data 2024