Recurrent familial neuropathy due to liability to pressure palsies. 1988

R Marazzi, and D Pareyson, and V Scaioli, and M Corbo, and A Boiardi, and G Chiodelli, and A Sghirlanzoni
Istituto Neurologico C. Besta, Milano.

Two families with hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated clinically, electrophysiologically and pathologically (2 index cases). Familial patterns suggest autosomal dominant inheritance. The clinical presentation is characteristic, with recurrent painless transitory mononeuropathy, without evident triggering factors, or caused by trivial trauma or pressure. In affected members neurophysiological studies showed diffuse slowing in nerve conduction, more evident at common sites of entrapment. Somatosensory evoked potentials (SEPs) showed bilateral peripheral abnormalities with proximal nerve involvement more pronounced in older patients. 40 to 75% of teased fibers displayed sausage-shaped swellings. Ultrastructurally some sausages showed redundant myelin loops and excessive number of myelin lamellae that seem to cause axonal constriction.

UI MeSH Term Description Entries
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
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009046 Motor Neurons Neurons which activate MUSCLE CELLS. Neurons, Motor,Alpha Motorneurons,Motoneurons,Motor Neurons, Alpha,Neurons, Alpha Motor,Alpha Motor Neuron,Alpha Motor Neurons,Alpha Motorneuron,Motoneuron,Motor Neuron,Motor Neuron, Alpha,Motorneuron, Alpha,Motorneurons, Alpha,Neuron, Alpha Motor,Neuron, Motor
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
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
D010243 Paralysis A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) Palsy,Plegia,Todd Paralysis,Todd's Paralysis,Palsies,Paralyses,Paralysis, Todd,Paralysis, Todd's,Plegias,Todds Paralysis
D011312 Pressure A type of stress exerted uniformly in all directions. Its measure is the force exerted per unit area. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed) Pressures
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005073 Evoked Potentials, Somatosensory The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM. Somatosensory Evoked Potentials,Evoked Potential, Somatosensory,Somatosensory Evoked Potential

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