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GENATLAS PHENOTYPE

last update : 14-09-2013

Symbol	HDLS
Location	5q33.1
Name	hereditary diffuse leukoencephalopathy with spheroids
Corresponding gene	CSF1R
Main clinical features	adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes; death with dementia within 6 years of onset brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

. mutations affecting the tyrosine kinase domain of CSF1R underlie the white-matter disease HDLS, establishing HDLS as a member of the recently defined class of primary microglial disorders called microgliopathies (PMID: 22197934))