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Klin Monbl Augenheilkd 2021; 238(04): 349-352
DOI: 10.1055/a-1386-3051
DOI: 10.1055/a-1386-3051
Der interessante Fall
Gelsolin-Amyloidosis – An Exceptional Cause of Blepharochalasis
Gelsolin-Amyloidose – eine ungewöhnliche Ursache für Blepharochalasis
Abbreviations
AGel:
hereditary gelsolin amyloidosis
BC:
blepharochalasis
G-A:
guanine-to-adenine
kDa:
kilodaltons
Publication History
Received: 12 September 2020
Accepted: 25 January 2021
Article published online:
30 April 2021
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
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References
- 1 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
- 2 Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 1998; 5: 55-66 doi:10.3109/13506129809007291
- 3 Maury CP, Kere J, Tolvanen R. et al. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett 1990; 276: 75-77 doi:10.1016/0014-5793(90)80510-p
- 4 Maury CP. Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. J Clin Invest 1991; 87: 1195-1199 doi:10.1172/JCI115118
- 5 Weeds AG, Gooch J, McLaughlin P. et al. Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. FEBS Lett 1993; 335: 119-123 doi:10.1016/0014-5793(93)80452-z
- 6 Page LJ, Suk JY, Huff ME. et al. Metalloendoprotease cleavage triggers gelsolin amyloidogenesis. EMBO J 2005; 24: 4124-4132 doi:10.1038/sj.emboj.7600872
- 7 Kiuru S. Familial amyloidosis of the Finnish type (FAF). Acta Neurol Scand 1992; 86: 346-353 doi:10.1111/j.1600-0404.1992.tb05099.x
- 8 Nikoskinen T, Schmidt EK, Strbian D. et al. Natural course of Finnish gelsolin amyloidosis. Ann Med 2015; 47: 506-511 doi:10.3109/07853890.2015.1075063
- 9 Schmidt EK, 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: 19 doi:10.1186/s13023-020-1300-5
- 10 Hiltunen T, Kiuru S, Hongell V. et al. Finnish type of familial amyloidosis: cosegregation of ASP187→ASN mutation of gelsolin with the disease in three large families. Am J Hum Genet 1991; 49: 522-528
- 11 Fuchs E. Über Blepharochalasis (Erschlaffung der Lidhaut). Wien Klin Wochenschr 1896; 9: 109
- 12 Collin JR. Blepharochalasis. A review of 30 cases. Ophthalmic Plast Reconstr Surg 1991; 7: 153-157 doi:10.1097/00002341-199109000-00001
- 13 Hashemian H, Jabbarvand M, Khodaparast M, Khalilipour E, Esfehani HR. Ocular presen-tations of amyloidosis. In: Feng D. ed. Amy-loidosis. London: IntechOpen; 2013: 85-110 doi:10.5772/53910
- 14 Sagnelli A, Piscosquito G, Di Bella D. et al. Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy. J Peripher Nerv Syst 2017; 22: 59-63 doi:10.1111/jns.12200
- 15 Kiuru-Enari S, Keski-Oja J, Haltia M. Cutis laxa in hereditary gelsolin amyloidosis. J Dermatol 2005; 152: 250-257 doi:10.1111/j.1365-2133.2004.06276.x
- 16 Kivelä T, Tarkkanen A, Frangione B. et al. Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meretojaʼs syndrome. Invest Ophthalmol Vis Sci 1994; 35: 3759-3769
- 17 Reilly MM, Staunton H. Peripheral nerve amyloidosis. Brain Pathol 1996; 6: 163-177 doi:10.1111/j.1750-3639.1996.tb00798.x