Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration. Issue 5 (23rd July 2020)

• Record Type: Journal Article
• Authors: Umehara, Fujio; Iwama, Kazuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi
• Is Part Of: Neurology and clinical neuroscience. Volume 8:Issue 5(2020:Sep.)
• Page Start: 332
• Page End: 334
• Publication Date: 2020-07-23
• Subjects: basal ganglia calcification -- Static encephalopathy of childhood with neurodegeneration in adulthood -- WDR45 -- β‐propeller protein‐associated neurodegeneration; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12427
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: A 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.