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Updated: Jul 20, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia
C Douglass1, K Suvarna, M M Reilly
1Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK. chris.douglass@sth.nhs.uk
Abstract:
We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy. Transthyretin amyloidosis was confirmed on biopsy of the heart muscle. Serum amyloid P component scintigraphy did not show visceral amyloid in extra-cardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.
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