Natural course of Finnish gelsolin amyloidosis

Nikoskinen, Tuuli; Schmidt, Eeva-Kaisa; Strbian, Daniel; Kiuru-Enari, Sari; Atula, Sari

doi:10.3109/07853890.2015.1075063

Cited by 44 publications

(59 citation statements)

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“…Clinical manifestations including seizures, multiple cerebral cavernous malformation, and hemorrhagic lesions in the proband's brain, and multiple cerebral cavernous malformation lesions in his mother's brain, complied with most of the common symptoms of FGA, suggesting that the patients might have FGA (Kiuru-Enar et al, 2002). The presence of the heterozygous G duplicate in exon1 (c.100dupG) of the GSN gene further supports that the disease of these patients was GSN mutation-mediated FGA (Kiuru-Enar et al, 2002;Kwiatkowski et al, 1988;Nikoskinen et al, 2015). The presence of these clinical manifestations and the mutation in the GSN gene in the proband and his mother, and the presence of the mutation in GSN without any clinical manifestation in the proband's daughter, support the observations that FGA develops at different paces in different patients (Atula, 2016).…”

Section: Discussionmentioning

confidence: 73%

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

et al. 2018

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ObjectivesIn this study, we report a case of Finnish gelsolin amyloidosis (FGA) in a Chinese family.MethodsThe proband presented with a range of clinical symptoms that included epileptic seizures and multiple lesions in the brain. Whole exome sequencing of the Gelsolin (GSN) gene was performed, and the GSN mutation was identified through comparison with the known human genome sequences using Genetic Testing Intelligent Execution System.ResultsThe GSN gene sequencing revealed that a heterozygous G duplicate in exon1 (c.100dupG) of the GSN gene, which caused a frameshift in GSN transcript translation in the proband, his mother and daughter, but his brother did not have it.ConclusionWe presented a new autosomal dominant heterozygous G duplicate mutation in exon1 of GSN gene, leading to FGA in a Chinese family.

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Section: Discussionmentioning

confidence: 73%

“…These point mutations cause defective folding of GSN protein, which makes the protein accumulate as GSN amyloid in various tissues. GSN mutations have been found in all molecular genetically characterized FGA patients in Finland (Nikoskinen, Schmidt, Strbian, Kiuru-Enari, & Atula, 2015).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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“…Corneal lattice dystrophy with amyloid deposits (type 2) is usually the first HGA sign in the third life decade, presenting with reduced corneal sensitivity, corneal erosions, and dry eye syndrome (Carrwik and Stenevi, ; Nikoskinen et al, ) . In our cases, ocular symptoms were mild or absent, corneal lattice dystrophy was not diagnosed before facial palsy and was revealed only by ophthalmologic evaluation when specifically looked for.…”

Section: Discussionmentioning

confidence: 99%

“…Other neurological and systemic features may occur (Meretoja, ; Kiuru‐Enari and Haltia, ) . The disease was first described in Finland where there is the largest number of patients (Nikoskinen et al, ) , although several cases have been reported from other countries (Conceição et al, ; Lüttmann et al, ; Solari et al, ; Taira et al, ; Alabdali et al, ; Park et al, ) . Two main mutations in the same nucleotide on GSN have been described so far, resulting in amino acid substitution and alteration of the primary structure of gelsolin (Levy et al, ; de la Chapelle et al, ) .…”

Section: Introductionmentioning

confidence: 99%

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Sagnelli¹,

Piscosquito²,

Bella

et al. 2017

J Peripheral Nervous Sys

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We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother. Gelsolin-gene sequencing revealed the heterozygous c.640G>A mutation (p.Asp187Asn) in the proband, his mother and aunt and also in three apparently asymptomatic relatives. The majority of HGA patients come from Finland, although several cases have been reported from other countries. HGA should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy.

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“…Exclusion criteria for the study population were (1) age below 50 years, (2) implanted cardiac pacemaker, (3) claustrophobia, and (4) implanted metal objects that could interfere with CMR. Patients selected were older than 50 years due to disease progression beginning at an older age [1]. …”

Section: Methodsmentioning

confidence: 99%

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Lehmonen

Kaasalainen

Atula

et al. 2019

Int J Cardiovasc Imaging

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Gelsolin (AGel) amyloidosis is a hereditary condition with common neurological effects. Myocardial involvement, especially strain, T1, or extracellular volume (ECV), in this disease has not been investigated before. Local myocardial effects and possible amyloid accumulation were the targets of interest in this study. Fifty patients with AGel amyloidosis were enrolled in the study. All patients underwent cardiovascular magnetic resonance imaging, including cine imaging, T1 mapping, tagging, and late gadolinium enhancement (LGE) imaging at 1.5 T. Results for volumetry, myocardial feature-tracking strain, rotation, torsion, native T1, ECV, and LGE were investigated. The population mean native T1 values in different segments of the left ventricle (LV) varied between 1003 and 1080 ms. Myocardial mean T1 was 1031 ± 37 ms. T1 was highest in the basal plane of the LV (1055 ± 40 ms), similarly to ECV (30.0% ± 4.4%). ECV correlated with native T1 in all LV segments (p < 0.005). Basal LGE was detected in 76% of patients, and mid-ventricular LGE in 32%. LV longitudinal strain was impaired (− 17.4% ± 2.6%), significantly decreasing apical rotation (p = 0.018) and concurrently myocardial torsion (p = 0.005). LV longitudinal strain correlated with mean T1 and ECV of different LV planes (p < 0.04; basal p < 0.01). Myocardial involvement in AGel amyloidosis is significant, but the effects are local, focusing on the basal plane of the LV.

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Natural course of Finnish gelsolin amyloidosis

Abstract: The first symptom was ophthalmological in most cases. Except for CLD no prominent difference in the age of appearance was found between the major symptoms. CTS, cardiac pacemakers, and cardiomyopathy were remarkably more common compared to the general population.

Cited by 44 publications

References 28 publications

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

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

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

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