Literature DB >> 1333716

Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.

S Kiuru1.   

Abstract

The clinical findings of familial amyloidosis of the Finnish type (FAF) were recorded in a series of 30 patients. The onset was in the 3rd or 4th decade with slow progression so that the majority was in good health still in the 7th decade. Decreased vision and corneal lattice dystrophy together with blepharochalasis were common. Signs of cranial neuropathy especially affecting the facial nerve were found in all and peripheral polyneuropathy mainly affecting the vibration and touch senses in 26 patients. Hypotrichosis, tongue and skin changes were also characteristic. Amyloid was found in all skin, sural nerve and muscle biopsies. FAF thus shows a triad of typical neurological, ophthalmological and dermatological manifestations distinct from other amyloidoses.

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Year:  1992        PMID: 1333716     DOI: 10.1111/j.1600-0404.1992.tb05099.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  10 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Authors:  H S Stewart; R Parveen; A E Ridgway; R Bonshek; G C Black
Journal:  Br J Ophthalmol       Date:  2000-04       Impact factor: 4.638

Review 3.  Animal models of human amyloidoses: are transgenic mice worth the time and trouble?

Authors:  Joel N Buxbaum
Journal:  FEBS Lett       Date:  2009-07-20       Impact factor: 4.124

Review 4.  Systemic diseases and the cornea.

Authors:  Ruchi Shah; Cynthia Amador; Kati Tormanen; Sean Ghiam; Mehrnoosh Saghizadeh; Vaithi Arumugaswami; Ashok Kumar; Andrei A Kramerov; Alexander V Ljubimov
Journal:  Exp Eye Res       Date:  2021-01-21       Impact factor: 3.467

5.  Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.

Authors:  Shuichiro Yamanaka; Yoichi Miyazaki; Kenji Kasai; Shu-Ichi Ikeda; Sari Kiuru-Enari; Tatsuo Hosoya
Journal:  Clin Kidney J       Date:  2013-04

6.  Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome).

Authors:  Valentín Huerva; Jordi Soldevila; Xavier Matias-Guiu
Journal:  Med Hypothesis Discov Innov Ophthalmol       Date:  2014

7.  Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type.

Authors:  I Casal; S Monteiro; C Abreu; M Neves; L Oliveira; M Beirão
Journal:  Case Rep Med       Date:  2017-01-31

8.  A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.

Authors:  Xuemin Feng; Hui Zhu; Teng Zhao; Yanbo Hou; Jingyao Liu
Journal:  Brain Behav       Date:  2018-11-12       Impact factor: 2.708

9.  Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.

Authors:  Maja Potrč; Marija Volk; Matteo de Rosa; Jože Pižem; Nataša Teran; Helena Jaklič; Aleš Maver; Brigita Drnovšek-Olup; Michela Bollati; Katarina Vogelnik; Alojzija Hočevar; Ana Gornik; Vladimir Pfeifer; Borut Peterlin; Marko Hawlina; Ana Fakin
Journal:  Int J Mol Sci       Date:  2021-01-22       Impact factor: 5.923

10.  Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.

Authors:  Eeva-Kaisa Schmidt; Tuuli Mustonen; Sari Kiuru-Enari; Tero T Kivelä; Sari Atula
Journal:  Orphanet J Rare Dis       Date:  2020-01-17       Impact factor: 4.123

  10 in total

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