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Mutations in PLA2G6 and the riddle of Schindler disease

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.^3–5 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 . . . [Full text of this article]