Hereditary leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature review

Abstract Objective This study aimed to characterize the clinical and neuroimaging features of hereditary leptomeningeal transthyretin amyloidosis (hATTR-LA), a dominant inheritance disorder caused by a heterozygous TTR gene mutation. Methods A comprehensive retrospective evaluation was conducted, in...

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Bibliographic Details
Main Authors: Hong-Tao Chen, You-Jun Tian, Jue Zhang, Bing-Rong Xiao, Ke Yang, Ya-Li Zhang
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03736-x
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