Research articleAutonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF)
References (47)
- et al.
Familial amyloidosis, Finnish type: G654- > A mutation of the gelsolin gene in Finnish families and an unrelated American family
Genomics
(1992) - et al.
Autonomic neuropathy: its diagnosis and prognosis
Clin. Endocrinol. Metab.
(1986) - et al.
Familial primary amyloidosis with severe amyloid heart disease
Am. J. Med.
(1962) Calcium and polyphosphoinositide control of cytoskeletal dynamics
Trends Neurosci.
(1989)- et al.
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein
Biochem. Biophys. Res. Commun.
(1990) - et al.
Gelsolin variant and β-amyloid co-occur in a case of Alzheimer's with Lewy bodies
Neurobiol. Aging.
(1991) - et al.
Vagus nerve and celiac ganglion lesions in generalized amyloidosis
A correlative study of familial amyloid polyneuropathy and AL-amyloidosis
J. Neurol. Sci.
(1987) - et al.
Left ventricular filling impairment in asymptomatic alcoholics
Am. J. Cardiol.
(1990) - et al.
Systemic amyloidosis
Oncol. Hematol.
(1990) - et al.
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin
Biochim. Biophys. Acta
(1990)
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene
FEBS Lett.
Finnish hereditary amyloidosis
Amino acid sequence homology between the amyloid fibril protein and human plasma gelsolin
FEBS Lett.
Homozygosity for the Asn 187 gelsolin mutation in Finnish type familial amyloidosis is associated with severe renal disease
Genomics
Lateral horn cells in progressive autonomic failure
J. Neurol. Sci.
Solid-phase minisequencing test reveals Asp187- > Asn (G654- > A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis
Genomics
Phalloidin and tropomysin do not prevent actin filament shortening by the 90 kD protein-actin complex from brain
Biochem. Biophys. Res. Commun.
Factors influencing Doppler indexes of left ventricular filling in healthy persons
Am. J. Cardiol.
Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin
J. Biol. Chem.
A peculiar form of peripheral neuropathy: familiar atypical generalized amyloidosis with special involvement of the peripheral nerves
Brain
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
Nat. Genet.
Dissociated sensation in amyloidosis: compound action potential, quantitative histologic and teased-fiber, and microscopic studies of sural nerve biopsies
Arch. Neurol.
Gelsolin variant (Asn-187) in familial amyloidosis
Finnish type. Biochem. J.
Amyloidosis due to a mutation of the gelsolin gene in an American family with corneal lattice dystrophy type II
New Engl. J. Med.
Cited by (48)
High-resolution crystal structure of gelsolin domain 2 in complex with the physiological calcium ion
2019, Biochemical and Biophysical Research CommunicationsCitation Excerpt :AGel amyloidosis is an autosomal-dominant monogenic disease. Symptoms include corneal lattice dystrophy, cranial neuropathy, skin elasticity problems, and renal complications [21–23]. The G2-related mutations occur at different sites: D187 is part of the Ca2+-binding site, both N and Y substitutions impair the ion binding [9,11–16]; the N184K mutant is still able to bind calcium and the geometry of the binding site matches that of wild type (WT) protein [10]; the G167R mutation was shown to promote the dimerization of GSN via a peculiar 3D domain swap mechanism [9].
Hereditary gelsolin amyloidosis
2013, Handbook of Clinical NeurologyCitation Excerpt :If HGA patients manifest with impaired consciousness it is important to consider possible conduction disturbances in the differential diagnosis. Clinically detectable amyloid cardiomyopathy is not common in middle-aged patients (Kiuru et al., 1994). According to French (Chastan et al., 2006) and recent Finnish observations (Laine et al., 2010), cardiac involvement may still be underestimated in HGA.
Amyloid Heart Disease
2010, Progress in Cardiovascular DiseasesPatterns of neuropathy and autonomic failure in patients with amyloidosis
2008, Mayo Clinic ProceedingsAutonomic neuropathies
2007, Neurobiology of Disease