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CORRESPONDENCE |
1 Departments of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, Oregon, USA
2 Departments of Pediatrics, and Neurology, School of Medicine, Oregon Health and Science University, Portland, Oregon, USA
Received 19 June 2006
Revised version received 27 June 2006
1 July 2006
Keywords: Schindler disease; infantile neuroaxonal dystrophy (INAD); PLA2G6; phospholipase A2; NAGA
| The first 150 words of the full text of this article appear below. |
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
-N-acetylgalactosaminidase (
-NAGA) and early-onset, rapidly progressive psychomotor regression.1 Whereas
-NAGA deficiency underlies the abnormal oligosacchariduria found in Schindler disease, its causal role in the neurological phenotype has been questioned. Other patients with
-NAGA deficiency show a puzzling spectrum of clinical findings that range from angiokeratoma to no abnormalilties.2,3 In two families, NAGA deficiency did not segregate with clinical abnormalities.35 Bakker et al2 and Keulemans et al3 have suggested that a second disease locus may explain these observations.
We recently identified mutations in the calcium-independent phospholipase A2 gene, PLA2G6, in infantile neuroaxonal dystrophy (INAD).4 INAD is characterised by progressive motor and sensory impairment, with pathological evidence of distended axons, termed "spheroids", in the
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