title: Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.
abstract: BACKGROUND
  Beta-propeller protein-associated neurodegeneration is a newly described X-linked dominant condition due to heterozygous mutations in WDR45. The condition is associated with characteristic changes on brain magnetic resonance imaging. Previous literature relating to this disorder has not specifically referred to intracranial calcification.
  
  
  METHODS
  A female patient presented with significant developmental delay in early childhood and subsequently demonstrated neurodegeneration with progressive dystonia and dementia in her third decade. Brain magnetic resonance imaging revealed low signal in the substantia nigra and both globus pallidi on T2-weighted imaging, with no eye-of-the-tiger sign. Computed tomography revealed bilateral dense calcification of the globus pallidus. We performed Sanger sequencing of the WDR45 gene in the patient and her parents.
  
  
  RESULTS
  We identified a heterozygous c.488del C p.Pro163Argfs*34 variant in exon 8 of WDR45. Neither parent carried the same mutation, indicating that the molecular change had occurred de novo.
  
  
  CONCLUSIONS
  Although the characteristic features of beta-propeller protein-associated neurodegeneration were present in our patient, the observation of basal ganglia calcification was considered atypical. Previous descriptions of basal ganglia calcification in individuals with neuronal brain iron accumulation led us to review the frequency of calcification in these disorders.
authors.affiliation: Department of Neurology, University Hospital of Antwerpen (UZA), Antwerpen, Belgium.
authors.forename: Gert
authors.initials: G
authors.lastname: Van Goethem
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: John H
authors.initials: JH
authors.lastname: Livingston
authors.affiliation: Department of Neuroradiology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: Daniel
authors.initials: D
authors.lastname: Warren
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom.
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Oojageer
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom.
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences; Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Hôpital Necker, Paris, France; Paris Descartes University, Paris, France. Electronic address: yanickcrow@mac.com.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D002114:Calcinosis / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000145:classification / Q000235:genetics / Q000473:pathology*; D019150:Neuroaxonal Dystrophies / Q000145:classification / Q000235:genetics / Q000473:pathology*
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human
keywords: WDR45; basal ganglia calcification; beta-propeller protein-associated neurodegeneration (BPAN); neurodegeneration with brain iron accumulation (NBIA)