GTR Home > Conditions/Phenotypes > Gliosis, familial progressive subcortical

Disease characteristics

Excerpted from the GeneReview: CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids
CSF1R-related hereditary diffuse leukoencephalopathy with spheroids (HDLS) is characterized by executive dysfunction, memory decline, personality changes, motor impairment, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 11 or more years (mean: 6 years).

Available tests

10 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, HDLS, M-CSF-R, CSF1R
    Summary: colony stimulating factor 1 receptor

Clinical features

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  • Hyperreflexia
  • Shuffling gait
  • Depression
  • Postural instability
  • Frontal lobe dementia
  • CNS demyelination
  • Neuronal loss in central nervous system
  • Memory impairment
  • Spasticity
  • Rigidity
  • Bradykinesia
  • Gliosis
  • Apraxia
  • Mutism
  • Abnormality of the cerebral white matter
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