CSF1R-Related Disorder: Phenotypic Continuum

Proposed Terminology 1CSF1R GenotypeManifestationsEncompassed Terminology 2
Biallelic PVsMonoallelic PV
Early-onset CSF1R-related disorder
(age <18 yrs)		TypicalRare
  • Neurologic manifestations
  • Skeletal abnormalities
  • Nonspecific dysmorphic facial features
  • Congenital brain abnormalities
Brain abnormalities, neurodegeneration, & dysosteosclerosis (BANDDOS)
Late-onset CSF1R-related disorder
(age ≥18 yrs)		RareTypicalTypically limited to neurologic manifestations (progressive neurologic decline)
  • Adult-onset leukoencephalopathy w/axonal spheroids & pigmented glia (ALSP)
  • Pigmentary orthochromatic leukodystrophy (POLD)
  • CSF1R-related leukoencephalopathy
  • Hereditary diffuse leukoencephalopathy w/spheroids (HDLS) 3

Adapted from Dulski et al [2024], Table 1

1.
2.
3.

The original Swedish family with HDLS had a heterozygous pathogenic variant in AARS1 (see Differential Diagnosis).

From: CSF1R-Related Disorder

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