Biomaterial Database

Nerve high-resolution ultrasonography in tangier disease. 2019

Antonella Di Pasquale, and Luca Leonardi, and Laura Fionda, and Fiammetta Vanoli, and Matteo Garibaldi, and Maurizio Inghilleri, and Marco Ceccanti, and Chiara Cambieri, and Emanuela Onesti, and Giovanni Antonini

Department of Neuroscience, Mental Health and Sensory Organs, Sapienza University of Rome, Sant'Andrea Hospital, Rome, Italy.

Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein and accumulation of cholesterol esters in peripheral nerves and other tissues. The aim of this study was to evaluate whether nerve high-resolution ultrasonography (HRUS) can detect morphological nerve changes in TD. Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in ABCA1, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation. Nerve HRUS data were compared with normal controls. Despite neurophysiological abnormalities, no quantitative HRUS abnormality was detected in peripheral nerves. Normalcy of HRUS in neurophysiologically abnormal nerves suggests possible subtle abnormalities that escape quantitative HRUS detection. Systematic studies in larger TD cohorts with different mutations are needed to confirm our findings. Muscle Nerve 59:587-587, 2019.

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
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
D010525	Peripheral Nerves	The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.	Endoneurium,Epineurium,Perineurium,Endoneuriums,Epineuriums,Nerve, Peripheral,Nerves, Peripheral,Perineuriums,Peripheral Nerve
D010543	Peroneal Nerve	The lateral of the two terminal branches of the sciatic nerve. The peroneal (or fibular) nerve provides motor and sensory innervation to parts of the leg and foot.	Fibular Nerve,Fibular Nerves,Nerve, Fibular,Nerve, Peroneal,Nerves, Fibular,Nerves, Peroneal,Peroneal Nerves
D001917	Brachial Plexus	The large network of nerve fibers which distributes the innervation of the upper extremity. The brachial plexus extends from the neck into the axilla. In humans, the nerves of the plexus usually originate from the lower cervical and the first thoracic spinal cord segments (C5-C8 and T1), but variations are not uncommon.	Plexus, Brachial
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly

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