Decreased noradrenaline (norepinephrine) synthesis in familial dysautonomia
نویسندگان
چکیده
منابع مشابه
Decreased noradrenaline (norepinephrine) synthesis in neurogenic orthostatic hypotension.
SUMMARY Three patients with idiopathic orthostatic (postural) hypotension were infused over a 4-hr period with 104.6 ,uc of 3-hydroxytyramine-2-'4C, the immediate precursor in the synthesis of the sympathetic neurohormone, that is, noradrenaline (norepinephrine). Urine was collected during the infusion period and at various intervals thereafter for a total of 5 days. By means of column fraction...
متن کاملFamilial dysautonomia.
Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...
متن کاملDermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia.
OBJECTIVES To use the technique of dermal microdialysis to examine sensitivity of skin vessels to noradrenaline (NA) in patients with familial dysautonomia (FD) and in healthy controls. METHODS In 14 patients with FD and 12 healthy controls, plasma extravasation, local laser Doppler blood flow, and skin blanching were observed before, during, and after application of 10(-6) M NA through a mic...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1971
ISSN: 0021-9738
DOI: 10.1172/jci106774