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Article

TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.

Journal of the neurological sciences - 15 Nov 2024

Muthukumarasamy Mary, Vijayabala Jeevagan, Tharmalingam Thulasi, Ceravolo Giorgia, Zhelcheska Kristina, Houlden Henry, Davagnanam Indran, Reilly Mary M, Lynch David S

Abstract excerpt

OBJECTIVES: This case report aims to contribute to the expanding genotypic-phenotypic spectrum of TTR associated leptomeningeal amyloidosis. METHODS: Neuroimaging and targeted TTR Sanger sequencing were performed on a 52-year-old female presenting with cognitive and motor symptoms. RESULTS: The proband, a Sri Lankan woman, presented with a gradually progressive cognitive decline, followed by a rapid deterioration...

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Identifiers

PMID: 39423596
DOI: 10.1016/j.jns.2024.123273

Genes

TTR

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