1,551
Views
42
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

Natural course of Finnish gelsolin amyloidosis

, , , &
Pages 506-511 | Received 16 Apr 2015, Accepted 17 Jul 2015, Published online: 28 Aug 2015

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-Enari S, Haltia M. Hereditary gelsolin amyloidosis. In: Said G, Krarup C, editors. Peripheral nerve disorders, volume 115: Handbook of clinical neurology. Amsterdam: Elsevier; 2013. p. 659–81.
  • 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.
  • Kwiatkowski DJ, Westbrook CA, Burns GAP, 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.
  • Maury CPJ, Kere J, Tolvanen R, de la Chapelle A. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett. 1990;276:75–7.
  • Efebera YA, Sturm A, Baack EC, Hofmeister CC, Satoskar A, Nadasdy T, et al. Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred. Amyloid. 2014;21:110–12.
  • Sethi S, Theis JD, Quint P, Maierhofer W, Kurtin PJ, Dogan A, et al. Renal amyloidosis associated with a novel sequence variant of gelsolin. Am J Kidney Dis. 2013;61:161–6.
  • Carrwik C, Stenevi U. Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). Acta Opthalmol (Oxf). 2009;87:813–19.
  • Kiuru S. Familial amyloidosis of the Finnish type (FAF): a clinical study of 30 patients. Acta Neurol Scand. 1992;86:346–53.
  • 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.
  • Meretoja J. Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet. 1973;4:173–85.
  • Haltia M, Ghiso J, Prelli F, Gallo G, Kiuru S, Somer H, et al. Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol. 1990;136:1223–8.
  • Liepnieks J, Zhang L, Benson M. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology. 2010;75:324–7.
  • Hund E. Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis. Appl Clin Genet. 2012;5:37–41.
  • 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 [dissertation]. Helsinki: University of Helsinki; 1973.
  • Mattila J, Krootila K, Kivela T, Holopainen J. Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. Ophthalmology. 2015;122:457–63.
  • Meretoja J. Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types. Ophtalmologica. 1972;165:15–37.
  • Kivela T, Tarkkanen A, Frangione B, Ghiso J, Haltia M. Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meretoja's syndrome. Invest Ophthalmol Vis Sci. 1994;35:3759–69.
  • Kiuru-Enari S, Somer H, Seppäläinen A-M, Notkola I-L, Haltia M. Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol. 2002;61:565–71.
  • Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, et al. Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report. Amyloid. 2007;14:89–95.
  • Kiuru S, Seppäläinen A-M. Neuropathy in familial amyloidosis, Finnish type (FAF): electrophysiological studies. Muscle Nerve. 1994;17: 299–304.
  • Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol. 2005;152:250–7.
  • Kiuru S, Salonen O, Haltia M. Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol. 1999;45:305–11.
  • Kiuru S, Javela K, Somer H, Kekomaki R. Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. Thromb Haemost. 2000;83:491–5.
  • Chastan N, Baert-Desurmont S, Saugier-Veber P, Derumeaux G, Cabot A, Frebourg 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;33:113–19.
  • Bradshaw P, Stobie P, Knuiman MW, Briffa TG, Hobbs MST. Trends in the incidence and prevalence of cardiac pacemaker insertions in the ageing population. Open Heart. 2014;1:e000177.
  • Fernandez A, Herreros J, Monzonis A, Panizo A. Heart transplantation for Finnish type familial systemic amyloidosis. Scand Cardiovasc J. 1997;31:357–9.
  • 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.
  • Weeds AG, Gooch J, McLaughlin P, Maury CP. Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. FEBS Lett. 1993;335:119–23.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.