Familial amyloid neuropathy
Encyclopedia
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant neuropathies of autonomic
and peripheral nerves.
(ATTR, the most commonly implicated protein), apolipoprotein A1
, and gelsolin
.
Due to the rareness of the other types, it is sometimes associated with transthyretin alone.
"FAP-I" and "FAP-II"
are associated with transthyretin
. (Senile systemic amyloidosis is also associated with transthyretin.)
"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1
.
"FAP-IV" is also known as "Finnish-type
", and involves gelsolin
.
Fibrinogen
, apolipoprotein A1
, and lysozyme
are associated with a closely related condition, familial visceral amyloidosis.
has demonstrated moderate great efficacy in ATTR familial amyloidosis due to Val30Met mutation .
Autonomic nervous system
The autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
and peripheral nerves.
Classification
The precursor proteins are: transthyretinTransthyretin
Transthyretin is a serum and cerebrospinal fluid carrier of the thyroid hormone thyroxine and retinol binding protein bound to retinol. This is how transthyretin gained its name, transports thyroxine and retinol...
(ATTR, the most commonly implicated protein), apolipoprotein A1
Apolipoprotein A1
Apolipoprotein A-I is a protein that in humans is encoded by the APOA1 gene. It has a specific role in lipid metabolism.Apolipoprotein A-I is the major protein component of high density lipoprotein in plasma. Chylomicrons secreted from the intestinal enterocyte also contain ApoA1 but it is quickly...
, and gelsolin
Gelsolin
Gelsolin is an actin-binding protein that is a key regulator of actin filament assembly and disassembly. Gelsolin is one of the most potent members of the actin-severing gelsolin/villin superfamily, as it severs with nearly 100% efficiency...
.
Due to the rareness of the other types, it is sometimes associated with transthyretin alone.
"FAP-I" and "FAP-II"
Familial amyloid polyneuropathy
Familial amyloid polyneuropathy , also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis or Corino de Andrade's disease, is an autosomal dominant neurodegenerative disease. It is a form of paramyloidosis, and was first identified and described by Portuguese neurologist...
are associated with transthyretin
Transthyretin
Transthyretin is a serum and cerebrospinal fluid carrier of the thyroid hormone thyroxine and retinol binding protein bound to retinol. This is how transthyretin gained its name, transports thyroxine and retinol...
. (Senile systemic amyloidosis is also associated with transthyretin.)
"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1
Apolipoprotein A1
Apolipoprotein A-I is a protein that in humans is encoded by the APOA1 gene. It has a specific role in lipid metabolism.Apolipoprotein A-I is the major protein component of high density lipoprotein in plasma. Chylomicrons secreted from the intestinal enterocyte also contain ApoA1 but it is quickly...
.
"FAP-IV" is also known as "Finnish-type
Finnish type amyloidosis
Finnish type amyloidosis is a form of amyloidosis associated with gelsolin. Lattice corneal dystrophy type II is a part of the clinical picture in this amyloidosis, unlike LCDI, in which pathology is limited by corneal tissue.-Presentation:...
", and involves gelsolin
Gelsolin
Gelsolin is an actin-binding protein that is a key regulator of actin filament assembly and disassembly. Gelsolin is one of the most potent members of the actin-severing gelsolin/villin superfamily, as it severs with nearly 100% efficiency...
.
Fibrinogen
Fibrinogen
Fibrinogen is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation. This is achieved through processes in the coagulation cascade that activate the zymogen prothrombin to the serine protease thrombin, which is responsible for...
, apolipoprotein A1
Apolipoprotein A1
Apolipoprotein A-I is a protein that in humans is encoded by the APOA1 gene. It has a specific role in lipid metabolism.Apolipoprotein A-I is the major protein component of high density lipoprotein in plasma. Chylomicrons secreted from the intestinal enterocyte also contain ApoA1 but it is quickly...
, and lysozyme
Lysozyme
Lysozyme, also known as muramidase or N-acetylmuramide glycanhydrolase, are glycoside hydrolases, enzymes that damage bacterial cell walls by catalyzing hydrolysis of 1,4-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between...
are associated with a closely related condition, familial visceral amyloidosis.
Treatment
Liver transplantationLiver transplantation
Liver transplantation or hepatic transplantation is the replacement of a diseased liver with a healthy liver allograft. The most commonly used technique is orthotopic transplantation, in which the native liver is removed and replaced by the donor organ in the same anatomic location as the original...
has demonstrated moderate great efficacy in ATTR familial amyloidosis due to Val30Met mutation .