Journal of Neurology, Neurosurgery, and Psychiatry 2007;78:193-195
SHORT REPORT
A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia
1 Royal Hallamshire Hospital, Sheffield, UK
2 Northern General Hospital, Sheffield, UK
3 The National Hospital for Neurology and Neurosurgery, London, UK
4 National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, London, UK
Correspondence to:
Correspondence to:
Dr C Douglass
Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK; chris.douglass{at}sth.nhs.uk
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.
Abbreviations: CNS, central nervous system; CSF, cerebrospinal fluid; FAP, familial amyloid polyneuropathy; TTR, transthyretin
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Memory disorders (neurology)
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Headache (including migraine)
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