ArticleAnnals of clinical and translational neurology2021
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.BMC musculoskeletal disorders · 2023Pooled it
- Efficacy and Safety of Vutrisiran in Patients with Hereditary Transthyretin-mediated Amyloidosis with Polyneuropathy: Analysis of the East Asian Subpopulation from HELIOS-A.Neurology and therapy · 2026Article
- Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.Journal of the American Heart Association · 2026Article
- UniqueAnnals of laboratory medicine · 2026Article
- Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.Frontiers in genetics · 2026Article
- Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report.Frontiers in cardiovascular medicine · 2026Article
- The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.BMC cardiovascular disorders · 2025Observational
- Cardiac Amyloidosis: Tribulations and New Frontiers.Journal of personalized medicine · 2025Review
- Article
- Real-World Characteristics and Treatment Patterns of Patients With Transthyretin Amyloid Cardiomyopathy: Protocol for a Multicountry Disease Registry Study.JMIR research protocols · 2025Article
- Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China.Orphanet journal of rare diseases · 2025Article
- Impact of Tafamidis on [European journal of nuclear medicine and molecular imaging · 2025Article
- Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Review
- Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.Scientific reports · 2024Article
- Use of Technetium-99m-Pyrophosphate Single-Photon Emission Computed Tomography/Computed Tomography in Monitoring Therapeutic Changes of Eplontersen in Patients With Hereditary Transthyretin Amyloid Cardiomyopathy.Journal of the American Heart Association · 2024Article
- Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.European journal of neurology · 2024Article
- Tafamidis improves myocardial longitudinal strain in A97S transthyretin cardiac amyloidosis.Therapeutic advances in chronic disease · 2024Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Noninvasive multimodality imaging in hereditary transthyretin amyloid cardiomyopathy: a family case series from the southeast coast of China with an identified heterozygous missense mutation c.349G>T in the transthyretin gene.Quantitative imaging in medicine and surgery · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China.
methodsFifty-four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed.
resultsThe male/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8 ± 13.0 years. The late-onset type occurred in 29 cases (53.7%). Twenty-two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different TTR mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16/40 cases (40.0%).
conclusionChinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.