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A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia

Douglass, C; Suvarna, K; Reilly, MM; Hawkins, PN; Hadjivassiliou, M; (2007) A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia. J NEUROL NEUROSUR PS , 78 (2) 193 - 195. 10.1136/jnnp.2006.093500.

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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 extracardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.

Type: Article
Title: A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia
DOI: 10.1136/jnnp.2006.093500
Keywords: LIVER-TRANSPLANTATION, LEPTOMENINGEAL AMYLOIDOSIS, CHOROID-PLEXUS, POLYNEUROPATHY, MUTATION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: http://discovery.ucl.ac.uk/id/eprint/165889
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