References
- Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res. 1969;1:314–324.
- Kuru-Enari S, Haltia M. Hereditary gelsolin amyloidosis. Handbook Clin Neurol. 2013;115:659–681.
- Kiuru S. Gelsolin-related familial amyloidosis, finnish type (FAF), and its variants found worldwide. Amyloid. 1998;5(1):55–66.
- Hornigold R, Patel AV, Ward V, et al. Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies. J Laryngol Otol. 2006;120(9):778–780.
- Kiuru S, Matikainen E, Kupari M, et al. Autonomic nervous system and cardiac involvement in familial amyloidosis, finnish type (FAF). J Neurol Sci. 1994;126(1):40–48.
- Schmidt E, Kiuru-Enari S, Atula S, et al. Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis. Amyloid. 2019;26(3):118–124.
- Schmidt E-K, Mustonen T, Kiuru-Enari S, et al. Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study. Orphanet J Rare Dis. 2020;15(1):1–13.
- Haltia M, Levy E, Meretoja J, et al. Gelsolin gene mutation at codon 187 in familial amyloidosis, finnish: DNA-diagnostic assay. Am J Med Genet. 1992;42(3):357–359.
- Solomon JP, Page LJ, Balch WE, et al. Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol. 2012;47(3):282–296. May
- Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet. 1973;4(3):173–185.
- Efebera YA, Sturm A, Baack EC, et al. Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred. Amyloid. 2014;21(2):110–112.
- Maramattom B, Chickabasaviah Y. A new indian family affected by gelsolin amyloidosis. Neurol India. 2013;61(6):673–675.
- Gonzalez-Rodriguez J, Ramirez-Miranda A, Hernandez-Da Mota SE, et al. CHST6, and GSN gene analysis in mexican patients with stromal corneal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2014;252(8):1267–1272.
- Zhang R, Shang F, Li D, et al. The first chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: nephrology picture. J Nephrol. 2021;34(4):1257–1259.
- Kiuru-Enari S, Somer H, Seppäläinen AM, et al. Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol. 2002;61(6):565–571. Jun
- Kiuru S, Seppäläinen AM. Neuropathy in familial amyloidosis, finnish type (FAF): electrophysiological studies. Muscle Nerve. 1994;17(3):299–304.
- Nikoskinen T, Schmidt EK, Strbian D, et al. Natural course of finnish gelsolin amyloidosis. Ann Med. 2015;47(6):506–511.
- Vrana JA, Gamez JD, Madden BJ, et al. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114(24):4957–4959.
- Ware JE, Kosinski M, Gandek B. SF‐36 health survey: manual & interpretation guide. Boston, MA: QualityMetric Incorporated; 2000.
- Cardoso I, Saraiva MJ. Doxycycline disrupts transthyretin amyloid: evidence from studies in a FAP transgenic mice model. Faseb J. 2006;20(2):234–239.
- Ward JE, Ren R, Toraldo G, et al. Doxycycline reduces fibril formation in a transgenic mouse model of AL amyloidosis. Blood. 2011;118(25):6610–6617.
- Ferreira N, Saraiva MJ, Almeida MR. Natural polyphenols as modulators of TTR amyloidogenesis: in vitro and in vivo evidences towards therapy. Amyloid. 2012;19(Suppl 1):39–42.
- Mereles D, Buss SJ, Hardt SE, et al. Effects of the main green tea polyphenol epigallocatechin-3-gallate on cardiac involvement in patients with AL amyloidosis. Clin Res Cardiol. 2010;99(8):483–490.
- Mullany S, Souzeau E, Klebe S, et al. A novel GSN variant outside the G2 calcium-binding domain associated with amyloidosis of the finnish type. Hum Mutat. 2021;42(7):818–826.
- Potrč M, Volk M, de Rosa M, et al. Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. IJMS. 2021;22(3):1084. 22
- Nag S, Larsson M, Robinson RC, et al. Gelsolin: the tail of a molecular gymnast. Cytoskeleton. 2013;70(7):360–384.
- Bonì F, Milani M, Barbiroli A, et al. Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein. Hum Mol Genet. 2018;27(1):53–65.
- Pihlamaa T, Salmi T, Suominen S, et al. Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis. Muscle Nerve. 2016;53(5):762–769.
- Covinsky KE, Wu AW, Landefeld CS, et al. Health status versus quality of life in older patients: does the distinction matter? Am J Med. 1999;106(4):435–440.
- Guyatt GH, Bombardier C, Tugwell PX. Measuring disease-specific quality of life in clinical trials. CMAJ. 1986;134(8):889–895.
- Ferrans CE. Differences in what quality-of-life instruments measure. J Natl Cancer Inst Monogr. 2007;2007(37):22–26.