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leukoencephalopathy, diffuse hereditary, with spheroids
Genetics:
- autosomal dominant
- associated with defects in CSF1R
Clinical manifestations:
- adult-onset rapidly progressive neurodegenerative disorder
- variable behavioral
- cognitive, & motor changes
Radiology:
- magnetic resonance imaging
- patchy abnormalities in the cerebral white matter predominantly affecting the frontal lobe & parietal lobe
Complications:
- patients often die of dementia within 6 years of onset
General
neurodegenerative disease
genetic disease of the central nervous system
Database Correlations
OMIM 221820
References
OMIM :accession 221820