Biomaterial Database

Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscope studies of the sural nerve. 1978

P A Low, and J G McLeod, and J W Prineas

Sural nerve biopsies from 15 patients with hypertrophic Charcot-Marie-Tooth disease have been studied by light and electron microscopy. There is a considerable variation in size of onion bulbs in patients from different kinships but the appearances were similar in patients from the same kinship. Comparison of sural nerve biopsies from patients within the same kinship suggests that with increasing age there is a progressive reduction in myelinated fibre density, an increased number of fibres undergoing demyelination and an increased frequency of onion bulb formations. Motor conduction velocities were reduced in all patients and were inversely proportional to the number of onion bulb lamellae, and to the proportion of demyelinated fibres found on sural nerve biopsy. Abnormalities of unmyelinated fibres were present in all the nerves studied. There was a relative increase in the density of denervated Schwann cell subunits and collagen pockets. The findings suggest that unmyelinated fibres undergo degeneration in the disease and lend some support to the hypothesis that the primary abnormality may be neuronal.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008475	Median Nerve	A major nerve of the upper extremity. In humans, the fibers of the median nerve originate in the lower cervical and upper thoracic spinal cord (usually C6 to T1), travel via the brachial plexus, and supply sensory and motor innervation to parts of the forearm and hand.	Median Nerves,Nerve, Median,Nerves, Median
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009133	Muscular Atrophy	Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.	Atrophy, Muscle,Neurogenic Muscular Atrophy,Neurotrophic Muscular Atrophy,Atrophies, Muscle,Atrophies, Muscular,Atrophies, Neurogenic Muscular,Atrophies, Neurotrophic Muscular,Atrophy, Muscular,Atrophy, Neurogenic Muscular,Atrophy, Neurotrophic Muscular,Muscle Atrophies,Muscle Atrophy,Muscular Atrophies,Muscular Atrophies, Neurogenic,Muscular Atrophies, Neurotrophic,Muscular Atrophy, Neurogenic,Muscular Atrophy, Neurotrophic,Neurogenic Muscular Atrophies,Neurotrophic Muscular Atrophies
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
D009431	Neural Conduction	The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.	Nerve Conduction,Conduction, Nerve,Conduction, Neural,Conductions, Nerve,Conductions, Neural,Nerve Conductions,Neural Conductions
D002607	Charcot-Marie-Tooth Disease	A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)	Atrophy, Muscular, Peroneal,HMSN Type I,HMSN Type II,Hereditary Motor and Sensory-Neuropathy Type II,Hereditary Motor, and Sensory Neuropathy Type I,Muscular Atrophy, Peroneal,Peroneal Muscular Atrophy,Roussy-Levy Syndrome,Charcot-Marie Disease,Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A,Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B,Charcot-Marie-Tooth Disease, Demyelinating, Type 1A,Charcot-Marie-Tooth Disease, Demyelinating, Type 1B,Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy,Charcot-Marie-Tooth Disease, Type 1A,Charcot-Marie-Tooth Disease, Type 1B,Charcot-Marie-Tooth Disease, Type I,Charcot-Marie-Tooth Disease, Type IA,Charcot-Marie-Tooth Disease, Type IB,Charcot-Marie-Tooth Disease, Type II,Charcot-Marie-Tooth Hereditary Neuropathy,Charcot-Marie-Tooth Neuropathy, Type 1A,Charcot-Marie-Tooth Neuropathy, Type 1B,Charcot-Marie-Tooth Syndrome,HMN Distal Type I,HMSN 1A,HMSN 1B,HMSN I,HMSN IA,HMSN IB,HMSN II,HMSN1A,HMSN1B,Hereditary Areflexic Dystasia,Hereditary Motor And Sensory Neuropathy IB,Hereditary Motor and Sensory Neuropathy 1A,Hereditary Motor and Sensory Neuropathy 1B,Hereditary Motor and Sensory Neuropathy IA,Hereditary Type I Motor and Sensory Neuropathy,Neuropathy, Type I Hereditary Motor and Sensory,Neuropathy, Type II Hereditary Motor and Sensory,Roussy Levy Hereditary Areflexic Dystasia,Roussy-Levy Disease,Roussy-Levy Hereditary Areflexic Dystasia,Areflexic Dystasia, Hereditary,Areflexic Dystasias, Hereditary,Atrophies, Peroneal Muscular,Atrophy, Peroneal Muscular,Charcot Marie Disease,Charcot Marie Tooth Disease,Charcot Marie Tooth Disease, Type 1A,Charcot Marie Tooth Disease, Type 1B,Charcot Marie Tooth Disease, Type I,Charcot Marie Tooth Disease, Type IA,Charcot Marie Tooth Disease, Type IB,Charcot Marie Tooth Disease, Type II,Charcot Marie Tooth Hereditary Neuropathy,Charcot Marie Tooth Neuropathy, Type 1A,Charcot Marie Tooth Neuropathy, Type 1B,Charcot Marie Tooth Syndrome,Dystasia, Hereditary Areflexic,Dystasias, Hereditary Areflexic,Hereditary Areflexic Dystasias,Hereditary Motor and Sensory Neuropathy Type II,Hereditary Neuropathy, Charcot-Marie-Tooth,Muscular Atrophies, Peroneal,Peroneal Muscular Atrophies,Roussy Levy Disease,Roussy Levy Syndrome,Syndrome, Charcot-Marie-Tooth,Syndrome, Roussy-Levy
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man