Biomaterial Database

Peripheral neuropathy in late-onset Krabbe's disease: histochemical and ultrastructural findings. 1996

R Matsumoto, and N Oka, and Y Nagahama, and I Akiguchi, and J Kimura

Department of Neurology, Osaka Red Cross Hospital, Japan.

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.

UI	MeSH Term	Description	Entries
D007965	Leukodystrophy, Globoid Cell	An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.	Diffuse Globoid Body Sclerosis,Galactosylceramidase Deficiency Disease,Krabbe Disease,Classic Globoid Cell Leukodystrophy,Early-Onset Globoid Cell Leukodystrophy,GALC Deficiency,Galactocerebrosidase Deficiency,Galactosylceramide Lipidosis,Galactosylceramide beta-Galactosidase Deficiency,Galactosylceramide-beta-Galactosidase Deficiency Disease,Galactosylcerebrosidase Deficiency,Galactosylsphingosine Lipidosis,Globoid Body Sclerosis, Diffuse,Globoid Cell Leukodystrophy,Globoid Cell Leukoencephalopathy,Globoid Leukodystrophy,Infantile Globoid Cell Leukodystrophy,Krabbe Leukodystrophy,Krabbe's Disease,Krabbe's Leukodystrophy,Late-Onset Globoid Cell Leukodystrophy,Leukodystrophy, Globoid Cell, Classic,Leukodystrophy, Globoid Cell, Early-Onset,Leukodystrophy, Globoid Cell, Infantile,Leukodystrophy, Globoid Cell, Late-Onset,Psychosine Lipidosis,Cell Leukodystrophies, Globoid,Cell Leukodystrophy, Globoid,Cell Leukoencephalopathies, Globoid,Cell Leukoencephalopathy, Globoid,Deficiencies, GALC,Deficiencies, Galactocerebrosidase,Deficiencies, Galactosylceramide beta-Galactosidase,Deficiency Disease, Galactosylceramidase,Deficiency Disease, Galactosylceramide-beta-Galactosidase,Deficiency Diseases, Galactosylceramidase,Deficiency Diseases, Galactosylceramide-beta-Galactosidase,Deficiency, GALC,Deficiency, Galactocerebrosidase,Deficiency, Galactosylceramide beta-Galactosidase,Disease, Galactosylceramidase Deficiency,Disease, Galactosylceramide-beta-Galactosidase Deficiency,Diseases, Galactosylceramidase Deficiency,Diseases, Galactosylceramide-beta-Galactosidase Deficiency,Early Onset Globoid Cell Leukodystrophy,GALC Deficiencies,Galactocerebrosidase Deficiencies,Galactosylceramidase Deficiency Diseases,Galactosylceramide beta Galactosidase Deficiency,Galactosylceramide beta Galactosidase Deficiency Disease,Galactosylceramide beta-Galactosidase Deficiencies,Galactosylceramide-beta-Galactosidase Deficiency Diseases,Globoid Cell Leukodystrophies,Globoid Cell Leukoencephalopathies,Globoid Leukodystrophies,Krabbes Disease,Krabbes Leukodystrophy,Late Onset Globoid Cell Leukodystrophy,Leukodystrophies, Globoid,Leukodystrophies, Globoid Cell,Leukodystrophy, Globoid,Leukodystrophy, Krabbe,Leukodystrophy, Krabbe's,Leukoencephalopathies, Globoid Cell,Leukoencephalopathy, Globoid Cell,beta-Galactosidase Deficiencies, Galactosylceramide,beta-Galactosidase Deficiency, Galactosylceramide
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009186	Myelin Sheath	The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.	Myelin,Myelin Sheaths,Sheath, Myelin,Sheaths, Myelin
D009413	Nerve Fibers, Myelinated	A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.	A Fibers,B Fibers,Fiber, Myelinated Nerve,Fibers, Myelinated Nerve,Myelinated Nerve Fiber,Myelinated Nerve Fibers,Nerve Fiber, Myelinated
D010523	Peripheral Nervous System Diseases	Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.	Peripheral Nerve Diseases,Peripheral Neuropathies,PNS (Peripheral Nervous System) Diseases,PNS Diseases,Peripheral Nervous System Disease,Peripheral Nervous System Disorders,Nerve Disease, Peripheral,Nerve Diseases, Peripheral,Neuropathy, Peripheral,PNS Disease,Peripheral Nerve Disease,Peripheral Neuropathy
D006651	Histocytochemistry	Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods.	Cytochemistry
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults