Peripheral neuropathy in late-onset Krabbe's disease: histochemical and ultrastructural findings.
We performed histochemical and ultrastructural studies on a sural nerve biopsy specimen obtained from a 31-year-old man with late-onset Krabbe's disease. Myelin sheaths were uniformly thin for the fiber diameter, with a moderate reduction in the myelinated fiber population. Despite a few small onion-bulb formations, quantitative studies demonstrated uniformly thin myelin sheaths and less variability in internodal lengths. This suggests that the main pathophysiology of the peripheral neuropathy observed in late-onset Krabbe's disease is hypomyelination rather than segmental demyelination as in infantile Krabbe's disease. Ultrastructurally, curvilinear lamellar cytoplasmic inclusions were observed in Schwann cells and fibroblasts.
Matsumoto
R
R
Department of Neurology, Osaka Red Cross Hospital, Japan.
Oka
N
N
Nagahama
Y
Y
Akiguchi
I
I
Kimura
J
J
D000328:Adult; D006651:Histocytochemistry; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000378:metabolism* / Q000473:pathology