Danish type gelsolin-related amyloidosis in a Brazilian family: Case reports

Arquivos Brasileiros de Oftalmologia

Volumn 74, Issue 4, 2011, Pages 286-288

  Solari, Helena Parente ^a,b   Ventura, Marcelo Palis ^a,b   Antecka, Emilia ^b   Junior, Rubens Belfort ^c   Burnier, Miguel Noel ^b  

^a FLUMINENSE FEDERAL UNIVERSITY   (Brazil)

^b MCGILL UNIVERSITY   (Canada)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Adult; Amyloidosis; Case reports; Cornea pathology; Corneal dystrophies; Female; Gelsolin; Hereditary; Humans; Male

Indexed keywords

EID: 80855141320     PISSN: 00042749     EISSN: 16782925     Source Type: Journal    
DOI: 10.1590/S0004-27492011000400012     Document Type: Article

References (13)

1. Kivelä 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(10):3759-69.
2. Maury CP, Liljeström M, Boysen G, Tornroth T, de la Chapelle A, Nurmiaho-Lassila EL. Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). J Clin Pathol. 2000;53(2):95-9.
3. Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, et al. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med. 1990;172(6):1865-7.
4. Conceição I, Sales-Luis ML, Carvalho M, Evangelista T, Fernandes R, Paunio T, et al. Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. Musc Nerve. 2003;28(6):715-21.
5. Isaacson RL, Weeds AG, Fersht AR. Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis - Finnish type. Proc Natl Acad Sci. 1999;96(20): 11247-52.
6. Rothstein A, Auran JD, Wittpenn JR, Koester CJ, Florakis GJ. Confocal microscopy in Meretoja syndrome. Cornea. 2002;21(4):364-7.
7. Chastan N, Baert-Desurmont S, Saugier-Veber P, Dérumeaux G, Cabot A, Frébourg T, et al. Cardiac conductions alterations in a French family with amyloidosis of the Finnish type with the p. Asp187 Tyr mutation in the GSN gene. Muscle Nerve. 2006;33(1):113-9.
8. Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black CG. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. Br J Ophthalmol. 2000;84(4):390-4. Comment in: Br J Ophthalmol. 2000;84(8):938.
9. Boysen G, Galassi G, Kamieniecka Z, Schlaeger J, Trojaborg W. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. J Neurol Neurosurg Psychiatry. 1979; 42(11):1020-30.
10. Kwiatkowski DJ, Stossel TP, Orkin SH, Mole JE, Colten HR, Yin HL. Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. Nature. 1986;323(6087):455-8.
11. 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(3):357-9.
12. Carrwik C, Stenevi U. Lattice corneal dystrophy, gelsolin-type (Meretoja's syndrome). Acta Ophthalmol. 2009;87(8):813-9.
13. Weiss JS, Moller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27 Suppl 2: S1-83. Comment in: Cornea. 2010; 29(12):1469.