RT Journal Article SR Electronic T1 Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome JF American Journal of Neuroradiology JO Am. J. Neuroradiol. FD American Society of Neuroradiology SP 2034 OP 2038 DO 10.3174/ajnr.A3560 VO 34 IS 10 A1 T. Wada A1 H. Ban A1 M. Matsufuji A1 N. Okamoto A1 K. Enomoto A1 K. Kurosawa A1 N. Aida YR 2013 UL http://www.ajnr.org/content/34/10/2034.abstract AB BACKGROUND AND PURPOSE: 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. MATERIALS AND 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. ADD domainATRX-DNMT3-DNMT3LATR-X (ATRX)X-linked α-thalassemia/mental retardation