Finnish type amyloidosis
Encyclopedia
Finnish type amyloidosis is a form of amyloidosis
associated with gelsolin
. Lattice corneal dystrophy type II (LCDII) is a part of the clinical picture in this amyloidosis, unlike LCDI
, in which pathology is limited by corneal tissue.
and ataxia
.
Amyloidosis
In medicine, amyloidosis refers to a variety of conditions whereby the body produces "bad proteins", denoted as amyloid proteins, which are abnormally deposited in organs and/or tissues and cause harm. A protein is described as being amyloid if, due to an alteration in its secondary structure, it...
associated with 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...
. Lattice corneal dystrophy type II (LCDII) is a part of the clinical picture in this amyloidosis, unlike LCDI
Lattice corneal dystrophy type I
Lattice corneal dystrophy type I is a rare form of human corneal dystrophy. It is caused by mutations in TGFBI gene encoding keratoepithelin. It has no systemic manifestations, unlike the other type of the dystrophy, LCDII. Filamentous opacities appear in the cornea with intertwining delicate...
, in which pathology is limited by corneal tissue.
Presentation
Associated conditions include cutis laxaCutis laxa
Cutis laxa is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.-Causes:In most cases, cutis laxa is inherited...
and ataxia
Ataxia
Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
.