Evidence map›Paper›PMID 41107809›Full record

ArticleBMC neurology2025

Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female.

Linhuan Huang, Houshi Zhou, Junling Chen, Ting Fang, Qi Lin

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Linhuan Huang *Department of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China. huanglinhuan@hotmail.com.
Houshi Zhou *Department of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China.
Junling Chen *Department of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China.
Ting FangDepartment of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China.
Qi LinDepartment of Neurology, Shantou Central Hospital, 114 Waima Road, Shantou, Guangdong Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTransthyretin amyloidosis (ATTRv) presents with highly variable, multisystem phenotypes, complicating diagnosis. CASE PRESENTATION: We describe a diagnostically challenging case of ATTRv caused by the rare Glu89Lys (p. Glu109Lys) variant in an East Asian female-the first reported instance in this ethnic group. The patient exhibited a complex multisystem phenotype spanning progressive axonal sensorimotor polyneuropathy with autonomic dysfunction, cerebral infarction, hypertrophic cardiomyopathy, vitreous opacities, and unexplained cachexia, culminating in a 4-year diagnostic odyssey. The lack of clinical suspicion delayed definitive diagnosis, ultimately achieved through combined tissue biopsy confirming amyloid deposits and targeted genetic sequencing confirming Glu89Lys variant.

conclusionOur findings highlight the imperative for heightened clinical vigilance and early utilization of multimodal diagnostic strategies in suspected ATTRv cases.

Indexed as

Amyloid Neuropathies, FamilialPrealbuminEast Asian PeopleFemaleHumansPrealbuminDiagnostic delayEast asian populationGlu89Lys mutation(p. Glu109Lys)Hereditary transthyretin amyloidosis(ATTRv)Multisystem involment

Identifiers

PMID41107809
PMCPMC12532868

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