Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency

Journal of Inherited Metabolic Disease
R J Desnick, A M Wang

Abstract

The clinical, pathological and biochemical features of a neuroaxonal dystrophy resulting from the deficient activity of lysosomal alpha-N-acetylgalactosaminidase are described. This neurodegenerative disorder was recognized in two brothers who had the typical clinical manifestations and neuropathological lesions observed in patients with Seitelberger disease, the infantile form of neuroaxonal dystrophy. Axonal 'spheroids' were observed histologically in the grey matter, and ultrastructural examination revealed the characteristic formations in dystrophic axons in the myenteric plexus and neocortex. Using a newly synthesized fluorogenic substrate, 4-methylumbelliferyl-alpha-N-acetylgalactosaminide, the markedly deficient activity of alpha-N-acetylgalactosaminidase was demonstrated in the affected brothers while their consanguineous parents had intermediate activities, consistent with the autosomal recessive transmission of this disease. No detectable alpha-N-acetylgalactosaminidase was seen in immunoblots using monospecific rabbit antihuman alpha-N-acetylgalactosaminidase antibodies. Abnormally increased amounts of urinary glycopeptides were observed by high resolution thin layer chromatography. Analytical studies identified four...Continue Reading

References

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Sep 1, 1990·Clinica Chimica Acta; International Journal of Clinical Chemistry·D SchindlerR J Desnick
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Citations

Sep 1, 1995·Journal of the Neurological Sciences·D E WolfeR J Desnick
Mar 25, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·E M BeyerI V Tsvetkova
Apr 1, 1997·Journal of Paediatrics and Child Health·C J EllawayJ Christodoulou
Jan 1, 1994·European Journal of Pediatrics·K Ullrich
Aug 12, 2014·Journal of the American Chemical Society·Lianne I WillemsHerman S Overkleeft
Apr 4, 2017·Rapid Communications in Mass Spectrometry : RCM·Monique PiraudRoseline Froissart
May 12, 2004·Neurology·F UmeharaT Kanzaki

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