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Original Article

Causes of death and life span in Finnish gelsolin amyloidosis

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Pages 352-358 | Received 15 Jan 2016, Accepted 06 Apr 2016, Published online: 02 May 2016

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;1:314–24.
  • Kiuru S. Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. Acta Neurol Scand. 1992;86:346–53.
  • Kiuru-Enari S, Haltia M. Hereditary gelsolin amyloidosis. In: Said G, Krarup C, eds. Peripheral nerve disorders, Volume 115, Handbook of clinical neurology, pp. 659–81. Amsterdam: Elsevier, 2013.
  • Kwiatkowski D, Westbrook C, Bruns G, Morton C. Localization of gelsolin proximal to ABL on chromosome 9. Am J Hum Genet. 1988;42:565–72.
  • Haltia M, Levy E, Meretoja J, Fernandez‐Madrid I, Koivunen O, Frangione B. Gelsolin gene mutation-at codon 187-in familial amyloidosis, Finnish: DNA-diagnostic assay. Am J Med Genet. 1992;42:357–9.
  • Maramattom BV, Chickabasaviah YT. A new Indian family affected by gelsolin amyloidosis. Neurol India. 2013;61:673–5.
  • Gonzalez-Rodriguez J, Ramirez-Miranda A, Hernandez-Da Mota SE, Zenteno JC. TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies. Graefes Arch Clin Exp Ophthalmol. 2014;252:1267–72.
  • Nikoskinen T, Schmidt EK, Strbian D, Kiuru-Enari S, Atula S. Natural course of Finnish gelsolin amyloidosis. Ann Med. 2015;47:506–11.
  • Solomon JP, Page LJ, Balch WE, Kelly JW. Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol. 2012;47:282–96.
  • Van Overbeke W, Verhelle A, Everaert I, Zwaenepoel O, Vandekerckhove J, Cuvelier C, et al. Chaperone nanobodies protect gelsolin against MT1-MMP degradation and alleviate amyloid burden in the gelsolin amyloidosis mouse model. Mol Ther. 2014;22:1768–78.
  • Van Overbeke W, Wongsantichon J, Everaert I, Verhelle A, Zwaenepoel O, Loonchanta A, et al. An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model. Hum Mol Genet. 2015;24:2492–507.
  • Meretoja J. Inherited systemic amyloidosis with lattice corneal dystrophy. Vammala: Vammalan Kirjapaino, 1973.
  • Kiuru S, Salonen O, Haltia M. Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol. 1999;45:305–11.
  • Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet. 1973;4:173–85.
  • Maury C, Kere J, Tolvanen R, De la Chapelle A. Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics. 1992;13:902–3.
  • Chastan N, Baert‐Desurmont S, Saugier‐Veber P, Dérumeaux G, Cabot A, Frébourg T, et al. Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. Muscle Nerve. 2006;33:113–9.
  • Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid. 1998;5:55–66.
  • Laine A, Kääriäinen H, Notkola IL, Kiuru-Enari S. Perinnöllinen Meretojan tauti. Runsas oirekirjo heikentää elämänlaatua ja lisää terveyspalvelujen käyttöä. Suom Laakaril. 2010;65:1417–23.
  • Kantanen M, Kiuru-Enari S, Salonen O, Kaipainen M, Hokkanen L. Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis). Peer J. 2014;2:e493.
  • Pihlamaa T, Rautio J, Kiuru-Enari S, Suominen S. Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis. Plast Reconstr Surg. 2011;127:2342–51.
  • Official Statistics of Finland (OSF): Causes of death [Internet]. ISSN =1799-5078. 2005, The key between the short list in the time series of the causes of death since 1969 and the earlier classifications: Helsinki: Statistics Finland [cited 2015 Aug 15]. Available at: http://www.stat.fi/til/ksyyt/2005/ksyyt_2005_2006-10-31_luo_002_en.html.
  • Hennekens CH, Buring JE, Mayrent SL. Epidemiology in medicine. Boston: Little Brown and Company. 1987.
  • Official Statistics of Finland (OSF): Deaths [e-publication]. ISSN =1798-2545: Helsinki: Statistics Finland [cited 2015 Dec 15]. Available at: http://www.stat.fi/til/kuol/index_en.html.
  • Meretoja J, Teppo L. Histopathological findings of familial amyloidosis with cranial neuropathy as principal manifestation. APMIS. 1971;79:432–40.
  • Makishita H, Ikeda SI, Yazaki M, Yamane M, Yumoto KK, Maury C, et al. Postmortem pathological findings in a Japanese patient with familial amyloidosis, Finnish type (FAF). Amyloid. 1996;3:134–9.
  • Paunio T, Kiuru S, Karonen SL, Palo J, Peltonen L. Quantification of serum and cerebrospinal fluid gelsolin in familial amyloidosis, Finnish type (AGel). Amyloid. 1994;1:80–9.
  • Peddada N, Sagar A, Garg R. Plasma gelsolin: a general prognostic marker of health. Med Hypotheses. 2012;78:203–10.
  • Sun HQ, Yamamoto M, Mejillano M, Yin HL. Gelsolin, a multifunctional actin regulatory protein. J Biol Chem. 1999;274:33179–82.
  • Kwiatkowski DJ. Functions of gelsolin: motility, signaling, apoptosis, cancer. Curr Opin Cell Biol. 1999;11:103–8.
  • Vouyiouklis DA, Brophy PJ. A novel gelsolin isoform expressed by oligodendrocytes in the central nervous system. J Neurochem. 1997;69:995–1005.
  • Kuzumaki N, Fujita H, Tanaka M, Sakai N, Ohtsu M, Maruta H, et al. In: Maruta H, Kazuhiro K, eds. G proteins, cytoskeleton and cancer, pp. 121–31. Austin, TX: R.G. Landes Company, 1998.
  • Asch HL, Head K, Dong Y, Natoli F, Winston JS, Connolly JL, et al. Widespread loss of gelsolin in breast cancers of humans, mice, and rats. Cancer Res. 1996;56:4841–5.
  • Tanaka M, Sazawa A, Shinohara N, Kobayashi Y, Fujioka Y, Koyanagi T, et al. Gelsolin gene therapy by retrovirus producer cells for human bladder cancer in nude mice. Cancer Gene Ther. 1999;6:482–7.
  • Chen P, Murphy-Ullrich JE, Wells A. A role for gelsolin in actuating epidermal growth factor receptor-mediated cell motility. J Cell Biol. 1996;134:689–98.
  • Lader AS, Lee JJ, Cicchetti G, Kwiatkowski DJ. Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line. Exp Cell Res. 2005;307:153–63.
  • Deng B, Fang J, Zhang X, Qu L, Cao Z, Wang B. Role of gelsolin in cell proliferation and invasion of human hepatocellular carcinoma cells. Gene. 2015;571:292–7.
  • Dosaka-Akita H, Hommura F, Fujita H, Kinoshita I, Nishi M, Morikawa T, et al. Frequent loss of gelsolin expression in non-small cell lung cancers of heavy smokers. Cancer Res. 1998;58:322–7.
  • Merlo A, Gabrielson E, Mabry M, Vollmer R, Baylin SB, Sidransky D. Homozygous deletion on chromosome 9p and loss of heterozygosity on 9q, 6p, and 6q in primary human small cell lung cancer. Cancer Res. 1994;54:2322–6.
  • Official Statistics of Finland (OSF): Causes of death [Internet]. ISSN =1799-5078: Helsinki: Statistics Finland [cited 2015 Jul 15]. Available at: http://www.stat.fi/til/ksyyt/tau_en.html.

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