• 1
    Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony-stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44:200205.
  • 2
    Sundal C, Lash J, Aasly J, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 2012;314:130137.
  • 3
    Mateen F, Keegan M, Krecke K, et al. Sporadic leukodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 2010;81:619622.
  • 4
    Patay Z. Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 2005;15:22842303.
  • 5
    Sundal C, Fujioka S, Van Gerpen JA, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013;19:869877.
  • 6
    Stamelou M, Quinn NP, Bhatia KP. “Atypical” atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple systems atrophy – a diagnostic guide. Mov Disord 2013;9:11841199.