Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.

Abstract

Morphologic alterations in biopsies of central and peripheral nervous tissue were investigated at the light-and electron-microscopic level in the first cases of lysosomal alpha-N-acetylgalactosaminidase deficiency. Widespread spheroid formation was observed in terminal and preterminal axons. Neocortical and peripheral autonomic axons contained tubulovesicular and lamelliform membranous arrays, prominent acicular clefts, and electron-dense axoplasmic matrix, the typical ultrastructural abnormalities corresponding to axonal spheroids in many inherited and acquired axonopathies. Central and peripheral membranous distal axonal spheroids were the only neuropathologic abnormality identified; other alterations resembling those in various neuronopathic lysosomal storage diseases were not observed. The morphologic findings and the distribution of the lesion in the present disorder are remarkably similar to those reported in the inherited infantile form of neuroaxonal dystrophy with normal alpha-N-acetylgalactosaminidase activity (Seitelberger disease).

• Authors: D E Wolfe, D Schindler, R J Desnick
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 132 Issue 1 Pg. 44-56 (Sep 1995) ISSN: 0022-510X [Print] Netherlands
• PMID: 8523030 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Nerve Growth Factors
• Hexosaminidases
• NAGA protein, human
• alpha-N-Acetylgalactosaminidase

Topics

• Axons (ultrastructure)
• Biopsy
• Brain (pathology)
• Central Nervous System Diseases (enzymology, pathology)
• Child
• Child, Preschool
• Hexosaminidases (deficiency)
• Humans
• Male
• Microscopy, Electron
• Nerve Degeneration (physiology)
• Nerve Growth Factors (deficiency)
• Neurons (ultrastructure)
• Peripheral Nervous System Diseases (enzymology, pathology)
• alpha-N-Acetylgalactosaminidase