Neuroaxonal dystrophy in infantile α-N-acetylgalactosaminidase deficiency

David E. Wolfe, Detlev Schindler, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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 α-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 α-N-acetylgalactosaminidase activity (Seitelberger disease).

Original languageEnglish
Pages (from-to)44-56
Number of pages13
JournalJournal of the Neurological Sciences
Volume132
Issue number1
DOIs
StatePublished - Sep 1995

Keywords

  • Axon
  • Lysosomal storage disease
  • Neuroaxonal dystrophy
  • Seitelberger disease
  • Spheroid
  • α-N-Acetylgalactosaminidase deficiency

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