familial amyloidosis


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fa·mil·i·al am·y·loid neu·rop·a·thy

[MIM*105120, various kinds]
a disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed; an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during midlife and is found largely in patients of Portuguese descent; autosomal dominant inheritance. Other rare clinical types occur.

familial amyloidosis

The only inherited form of amyloidosis. In this variant of the disease, transthyretin is manufactured by the liver and deposits in a wide variety of tissues, causing them to malfunction.
See also: amyloidosis
References in periodicals archive ?
Trojaborg, "Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy," Journal of Neurology, Neurosurgery and Psychiatry, vol.
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.
In ATTR and all other forms of familial amyloidosis, the variant structure of the amyloid precursor is the pivotal factor in amyloidogenesis,[16] TTR is a carrier protein for thyroid hormone and retinol binding protein.

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