Work

Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature

Year: 2022

Type: article

Abstract: A 31-year-old woman with transthyretin (TTR) amyloidosis secondary to a Thr60Ala mutation developed recurrent stroke-like episodes with fluctuating mental status. Evaluation for stroke and seizures was unrevealing. She was found to have leptomeningeal contrast enhancement on magnetic resonance imaging, which was confirmed to be CNS TTR amyloidosis on histopathology following brain and dura biopsy. While leptomeningeal disease has rarely been known to be associated with TTR amyloidosis, this is the first documented case of leptomeningeal disease secondary to a Thr60Ala mutation in the TTR gene. A literature review of TTR amyloidosis is presented with special focus on the treatment of leptomeningeal TTR amyloidosis.

Source: The Neurohospitalist

DOI: 10.1177/19418744221127849

Authors: Nathan Carberry, Sun Yu, Raisy N. Fayerman, Rachelle Dugue, Michael Miller, Kurenai Tanji, Tarini Goyal, Peter Canoll, Thomas H. Brannagan

Institutions: University of Miami, Columbia University Irving Medical Center, Columbia University

Language: English

Topic: Amyloidosis: Diagnosis, Treatment, Outcomes

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4303983186

FWCI: 0.489

Cites: 41

Cited by: 6

Related to: 10