Literature DB >> 3513049

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

B T Darras, L S Adelman, J S Mora, R A Bodziner, T L Munsat.   

Abstract

A 64-year-old woman had bilateral facial weakness, mild peripheral neuropathy, incoordination, and impaired balance. A corneal transplant had been performed for corneal lattice dystrophy. Sural nerve biopsy showed mild axonal neuropathy with deposits of amyloid in the perineurium. Histochemical studies showed amyloid protein AA in the nerve, but not in cornea or muscle.

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Mesh：

Year:  1986        PMID： 3513049     DOI： 10.1212/wnl.36.3.432

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  9 in total

1.  Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

Authors:  M Haltia; J Ghiso; F Prelli; G Gallo; S Kiuru; H Somer; J Palo; B Frangione
Journal:  Am J Pathol       Date:  1990-06       Impact factor: 4.307

2.  Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.

Authors:  J Ghiso; M Haltia; F Prelli; J Novello; B Frangione
Journal:  Biochem J       Date:  1990-12-15       Impact factor: 3.857

3.  Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.

Authors:  C P Maury
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

4.  Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Authors:  T Hiltunen; S Kiuru; V Hongell; T Heliö; J Palo; L Peltonen
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

5.  Immunohistochemical analysis of lattice corneal dystrophies types I and II.

Authors:  T Kivelä; A Tarkkanen; I McLean; J Ghiso; B Frangione; M Haltia
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

6.  Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

Authors:  R D Steiner; T Paunio; T Uemichi; J P Evans; M D Benson
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

7.  Mutation in gelsolin gene in Finnish hereditary amyloidosis.

Authors:  E Levy; M Haltia; I Fernandez-Madrid; O Koivunen; J Ghiso; F Prelli; B Frangione
Journal:  J Exp Med       Date:  1990-12-01       Impact factor: 14.307

8.  Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report.

Authors:  Dietrich Sturm; Tobias Schmidt-Wilcke; Tineke Greiner; Christoph Maier; Marc Schargus; Martin Tegenthoff; Matthias Vorgerd
Journal:  Case Rep Neurol       Date:  2016-06-27

9.  Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis).

Authors:  Mari Kantanen; Sari Kiuru-Enari; Oili Salonen; Markku Kaipainen; Laura Hokkanen
Journal:  PeerJ       Date:  2014-07-22       Impact factor: 2.984
  9 in total

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