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 language | English |
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Pages (from-to) | 44-56 |
Number of pages | 13 |
Journal | Journal of the Neurological Sciences |
Volume | 132 |
Issue number | 1 |
DOIs | |
State | Published - Sep 1995 |
Keywords
- Axon
- Lysosomal storage disease
- Neuroaxonal dystrophy
- Seitelberger disease
- Spheroid
- α-N-Acetylgalactosaminidase deficiency