ArticleNeurogenetics2012
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 17 citations in OpenAlex.
- Hereditary gelsolin amyloidosis in Brazil: case report and brief review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Article
- Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.Yonsei medical journal · 2021Article
- Analyses Mutations inFrontiers in aging neuroscience · 2020Article
- The role of gelsolin domain 3 in familial amyloidosis (Finnish type).Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.Brain and behavior · 2018Article
- Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.European journal of human genetics : EJHG · 2018Article
- Partial duplication ofAnnals of clinical and translational neurology · 2017Article
- The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.Annals of laboratory medicine · 2016Article
- Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2014Article
- Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.Clinical kidney journal · 2013Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systematic amyloidosis characterized by lattice corneal dystrophy, cranial neuropathy, and cutis laxa. Although FAF has been frequently found in the Finnish population, FAF is a considerably rare disorder in other regions. In this study, we examined the clinical characteristics as well as the haplotypes of six Japanese patients with FAF from five families. They showed the typical clinical presentations of FAF, but we found a broad range of ages at onset of neurological symptoms. All members had the c.654G>A mutation in GSN. To evaluate the disease haplotypes, high-density single-nucleotide polymorphism (SNP) arrays were used and disease-relevant haplotypes were reconstructed. Haplotype analysis in the four apparently unrelated families suggested a common founder haplotype. In a sporadic FAF patient, however, the haplotype was dissimilar to the founder haplotype. The present study demonstrated that a founder mutation in most of the Japanese families with FAF, except for a sporadic patient in whom a de novo mutation event was suggested as the origin of the mutation.
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