Abstract
AbstractA 46‐year‐old Japanese woman presented with slowly progressing parkinsonism/dystonia in adulthood. She had a history of epilepsy and intellectual disability in childhood. Additionally, brain CT revealed bilateral calcification of the globus pallidus. Further investigation using T2‐weighted brain magnetic resonance imaging showed low signal intensity in the globus pallidus and the substantia nigra; T1‐weighted imaging revealed a parallel line of hyperintensity in the midbrain. We identified a de novo c.233C > A, p. Ser78* mutation on the WDR45 gene. Static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration should be enlisted among the causes for parkinsonism/dystonia with basal ganglia calcification.
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