ArticleJournal of neurology2018
Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 59 citations in OpenAlex.
- Visceral technetium-99 m-labeled pyrophosphate uptake in patients with wild-type transthyretin cardiac amyloidosis.Annals of nuclear medicine · 2026Article
- UniqueAnnals of laboratory medicine · 2026Article
- Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.Orphanet journal of rare diseases · 2025Article
- Dynamic changes of intracellular signals in ATTR Tyr114Cys amyloidosis.Biochemistry and biophysics reports · 2025Article
- TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.European journal of neurology · 2025Article
- Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.Orphanet journal of rare diseases · 2024Article
- Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Journal of neurology · 2024Review
- Distinctive Deposition Patterns of Sporadic Transthyretin-Derived Amyloidosis in the Atria: A Forensic Autopsy-Based Study.International journal of molecular sciences · 2024Article
- Characterization of heterozygous ATTR Tyr114Cys amyloidosis-specific induced pluripotent stem cells.Heliyon · 2024Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy.Internal medicine (Tokyo, Japan) · 2023Article
- Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.Neurology · 2023Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.Journal of neurology · 2021Article
- Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.Journal of neurology · 2021Review
- Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.Annals of clinical and translational neurology · 2021Article
- Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story.Drug design, development and therapy · 2021Review
- Impact of Non-Cardiac Clinicopathologic Characteristics on Survival in Transthyretin Amyloid Polyneuropathy.Neurology and therapy · 2020Article
- Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S).Internal medicine (Tokyo, Japan) · 2019Article
- Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights.Biomedicines · 2019Review
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary transthyretin (ATTR) amyloidosis is a life-threatening, autosomal dominant, systemic amyloidosis caused by mutant transthyretin. In addition to ATTRV30M in endemic and non-endemic areas, more than 140 non-V30M mutations occur worldwide. The aim of this study was to analyze the clinical characteristics and genetic frequencies of hereditary ATTR amyloidosis. Diagnostic results and clinical manifestations of hereditary ATTR amyloidosis from April 1, 2012, to March 31, 2017, at Amyloidosis Medical Practice Center, Kumamoto University Hospital were analyzed. One hundred and four patients received a diagnosis of symptomatic hereditary ATTR amyloidosis. The following mutations of the TTR gene and their percentages were found: V30M in endemic areas, 10.6%; V30M in non-endemic areas, 51.0%; and non-V30M, 38.5%. The ages at onset of patients with ATTRV30M amyloidosis in non-endemic areas (66.6 ± 8.7 years) and those with non-V30M ATTR amyloidosis (55.8 ± 13.6 years) were significantly higher than those with ATTRV30M amyloidosis in endemic areas (37.0 ± 12.6 years). Of patients with ATTRV30M amyloidosis in endemic and non-endemic areas, and non-V30M ATTR amyloidosis, 63.6, 66.0, and 27.5% initially presented with polyneuropathy, respectively. Of patients with ATTRV30M amyloidosis in endemic areas, 81.8% had a family history of this disease. However, a significantly smaller percentage of patients with ATTRV30M amyloidosis (30.0%) in non-endemic areas and non-V30M ATTR amyloidosis (34.0%) had a family history. Patients with ATTRV30M amyloidosis in non-endemic areas and patients with non-V30M ATTR amyloidosis occurred more frequently than previously believed, and their clinical manifestations were diverse.
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