Journal
NEUROLOGY
Volume 97, Issue 2, Pages E222-E223Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000012056
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A 47-year-old man presented with progressive right-hand bradykinesia and shuffling gait, diagnosed with Parkinsonism and hereditary diffuse leukoencephalopathy. MRI findings confirmed the diagnosis, but treatment with levodopa and selegiline showed minimal response.
A 47-year-old man presented to clinic with progressive right-hand bradykinesia and shuffling gait for 8 months. He was diagnosed with parkinsonism. Brain MRI demonstrated diffusion-weighted imaging (DWI)-hyperintense signal involving bilateral corona radiate (figure 1) and T2-weighted MRI showed white matter changes (figure 2). Colony-stimulating factor 1 receptor (CSF1R) gene sequencing revealed the pathogenic variant c.2381T>C(p.Ile794Thr), confirming the diagnosis of hereditary diffuse leukoencephalopathy with spheroids.(1) The patient was treated with levodopa and selegiline with minimal response.(2)
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