ArticleChinese medical journal2015
Hereditary Transthyretin Amyloidosis in Eight Chinese Families.
Article in Chinese medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.Orphanet journal of rare diseases · 2022Pooled it
- Prevalence and Outcomes of p.Val142IleCirculation. Genomic and precision medicine · 2021Pooled it
- Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.Frontiers in genetics · 2026Article
- Article
- Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China.Orphanet journal of rare diseases · 2025Article
- Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study.Journal of neuroimaging : official journal of the American Society of Neuroimaging · 2022Article
- Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.Cardiology journal · 2022Article
- Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.Annals of medicine · 2021Observational
- Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.Annals of clinical and translational neurology · 2021Article
- Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy.Frontiers in neurology · 2021Article
- Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.Orphanet journal of rare diseases · 2019Article
- Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.European journal of human genetics : EJHG · 2019Article
- Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.Orphanet journal of rare diseases · 2019Review
- Cardiac denervation evidenced by MIBG occurs earlier than amyloid deposits detection by diphosphonate scintigraphy in TTR mutation carriers.European journal of nuclear medicine and molecular imaging · 2018Article
- Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Chinese medical journal · 2017Article
- Ophthalmological manifestations of hereditary transthyretin amyloidosis.Arquivos brasileiros de oftalmologiaReview
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.
methodsClinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed.
resultsThe onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2.
conclusionsSince the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.
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