CSF1R-related leukoencephalopathy

Evidence-based neurology checklist on csf1r-related leukoencephalopathy: Genetics This is a primary microglial disorder This is caused by mutations in the CSF1R gene CSF1R plays a role in microglial differentiation The transmission is autosomal dominant The onset in the fourth to fifth decades The…

Genetics

  • This is a primary microglial disorder
  • This is caused by mutations in the CSF1R gene
  • CSF1R plays a role in microglial differentiation
  • The transmission is autosomal dominant
  • The onset in the fourth to fifth decades
  • The onset age is earlier in females
  • The mutations also cause haematological malignancies
  • CSF1R gene mutations also cause BANDDOS syndrome

Pathological features

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI): features

Cerebrospinal fluid (CSF) analysis

Investigational treatments

Synonyms

Acronyms

References

  1. Lakshmanan R, Adams ME, Lynch DS, et al. Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurol Genet 2017; 3:e135.
  2. Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol 2017; 24:37-45.
  3. Codjia P, Ayrignac X, Mochel F, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: an MRI study of 16 French cases. Am J Neuroradiol 2018; 39:1657-1661.
  4. Traschütz A, Hattingen E, Klockgether T, Paus S. Mirror movements and blepharoclonus as novel phenomena in hereditary diffuse leukoencephalopathy with spheroids. Parkinsonism Relat Disord 2018; pii: S1353-8020(18)30304-3 ([Epub ahead of print).
  5. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011; 44:200-205.
  6. And 16 more. Subscribe to see the full list

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