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Mutations in PLA2G6 and the riddle of Schindler disease
  1. S K Westaway,
  2. A Gregory,
  3. S J Hayflick
  1. 1Departments of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, Oregon, USA
  2. 2Departments of Pediatrics, and Neurology, School of Medicine, Oregon Health and Science University, Portland, Oregon, USA

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    We would like to draw attention to a recent discovery that may explain the striking discordance between the clinical and biochemical phenotypes observed in Schindler disease. This disorder was originally reported in siblings with deficiency of α-N-acetylgalactosaminidase (α-NAGA) and early-onset, rapidly progressive psychomotor regression.1 Whereas α-NAGA deficiency underlies the abnormal oligosacchariduria found in Schindler disease, its causal role in the neurological phenotype has been questioned. Other patients with α-NAGA deficiency show a puzzling spectrum of clinical findings that range from angiokeratoma to …

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