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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03736-x |
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