A novel amyloidogenic transthyretin variant, GIy53AIa, associated with intermittent headaches and ataxia

Douglass, C.; Suvarna, K.; Reilly, M. M.; Hawkins, P. N.; Hadjivassiliou, M.
February 2007
Journal of Neurology, Neurosurgery & Psychiatry;Feb2007, Vol. 78 Issue 2, p193
Academic Journal
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 extracardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.


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