title: Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
abstract: OBJECTIVE
  X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and peculiar behavior. More than 200 patients in the world, including >70 Japanese patients, have been diagnosed with ATR-X syndrome.
  
  
  METHODS
  We reviewed the brain MRI and/or CT findings of 27 Japanese patients with ATR-X with ATRX mutations retrospectively.
  
  
  RESULTS
  The findings were categorized into 5 types: 1) nonspecific brain atrophy (17/27); 2) white matter abnormalities, especially around the trigones (11/27); 3) widespread and scattered white matter abnormalities (1/27); 4) delayed myelination (4/27); and 5) severe and rapidly progressive cortical brain atrophy (1/27).
  
  
  CONCLUSIONS
  This is the first report on a comprehensive study of brain MRI/CT findings of ATR-X syndrome. Our findings suggest that the ATRX protein seems to be involved in normal myelination. The classification will require revisions in the near future, but it will be helpful in establishing the relationship between ATRX mutation and brain development and understanding the ATRX protein function in the brain.
authors.affiliation: Divisions of Neurology.
authors.forename: T
authors.initials: T
authors.lastname: Wada
authors.forename: H
authors.initials: H
authors.lastname: Ban
authors.forename: M
authors.initials: M
authors.lastname: Matsufuji
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: K
authors.initials: K
authors.lastname: Enomoto
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: N
authors.initials: N
authors.lastname: Aida
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D001284:Atrophy / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics* / Q000502:physiology; D018450:Disease Progression; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D038901:X-Linked Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology* / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D000075924:X-linked Nuclear Protein; D055815:Young Adult; D017085:alpha-Thalassemia / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein