ArticleJournal of neurology2019
The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Hereditary leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature review.Orphanet journal of rare diseases · 2025Pooled it
- Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.Orphanet journal of rare diseases · 2022Pooled it
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Article
- Identification of novel compound heterozygous variants in theFrontiers in molecular biosciences · 2023Article
- TheFrontiers in molecular neuroscience · 2023Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.Annals of clinical and translational neurology · 2021Article
- NovelFrontiers in cardiovascular medicine · 2021Article
- Extended Study ofFrontiers in neurology · 2020Article
- Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.Orphanet journal of rare diseases · 2019Article
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants. A small number of TTR variants lead to leptomeningeal amyloidosis (LA), which is a rare FAP subtype with late-onset central nervous system (CNS) impairment symptoms. Previous studies suggest that LA's CNS selectivity was due to complete endoplasmic reticulum-associated degradation of highly destabilized mutants in peripheral tissues. LA's later age at onset (AAO) was due to lower choroid plexus secretory efficacy. This study reports on a family with LA, including six symptomatic and three presymptomatic members. The LA diagnosis was confirmed by leptomeningeal enhancement on contrast MRI, elevated cerebrospinal fluid protein levels, and positive Congo red staining. The predominant symptoms included headaches, dizziness, vomiting, hallucinations, and cognitive impairments which associated with obstructive hydrocephalus. The TTR p.D38G variant with the lowest secretory efficacy was identified as the genetic cause by whole exome sequencing. The family had a statistically significantly earlier mean AAO of 31.3 ± 7.4 (p = 0.001). These uncommon phenotypes indicate unknown factors influencing the progress of CNS impairment via TTR mutants. Medical imaging examinations suggest the potential early diagnosis value of contrast MRI and the importance of ependyma involvement in LA. LA genetic and clinical data were reviewed and summarized. These findings expand the FAPs' phenotypic spectrum and are valuable in FAP diagnosis, treatment, and further research.
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