Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.
J Neuropathol Exp Neurol, 1977/7;36(4):693-711.
Argyrakis A, Pilz H, Goebel HH, Müller D
PMID: 196053
Impact factor: 3.148
Abstract
In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.
MeSH terms
Adolescent; Cytoplasmic Granules; Endoplasmic Reticulum; Glycogen; Humans; Inclusion Bodies; Leukodystrophy, Metachromatic; Lipofuscin; Male; Microscopy, Electron; Mitochondria; Myelin Sheath; Peripheral Nerves; Schwann Cells; Sulfoglycosphingolipids
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