T Konno K Yoshida T Mizuno T Kawarai M Tada H Nozaki S-I Ikeda M Nishizawa O Onodera Z K Wszolek T Ikeuchi
10.1111/ene.13125
Eur J Neurol
2017 Jan;24(1):37-45.
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia colony stimulating factor 1 receptor hereditary diffuse leukoencephalopathy with spheroids leukoencephalopathy pigmented orthochromatic leukodystrophy
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/27680516/
Leukoencephalopathies / genetics Leukoencephalopathies / pathology Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics
Leukoencephalopathies / genetics Leukoencephalopathies / pathology Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics Adolescent Adult Age of Onset Aged Aged, 80 and over Axons / pathology Corpus Callosum / diagnostic imaging Corpus Callosum / pathology Female Heterozygote Humans Leukoencephalopathies / diagnostic imaging Magnetic Resonance Imaging Male Middle Aged Movement Disorders / etiology Movement Disorders / physiopathology Mutation / genetics Neuroglia / pathology Penetrance Pyramidal Tracts / diagnostic imaging Pyramidal Tracts / pathology Sex Characteristics White Matter / diagnostic imaging White Matter / pathology Young Adult CSF1R protein, human Receptors, Granulocyte-Macrophage Colony-Stimulating Factor
PMC5215554
27680516
Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation
2017