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A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia
  1. C Douglass1,
  2. K Suvarna2,
  3. M M Reilly3,
  4. P N Hawkins4,
  5. M Hadjivassiliou1
  1. 1Royal Hallamshire Hospital, Sheffield, UK
  2. 2Northern General Hospital, Sheffield, UK
  3. 3The National Hospital for Neurology and Neurosurgery, London, UK
  4. 4National Amyloidosis Centre, Department of Medicine, Royal Free and University College Medical School, London, UK
  1. Correspondence to:
 Dr C Douglass
 Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK; chris.douglass{at}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.

  • CNS, central nervous system
  • CSF, cerebrospinal fluid
  • FAP, familial amyloid polyneuropathy
  • TTR, transthyretin

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Footnotes

  • Competing interests: None.

  • Informed consent was obtained from the patient for publication of her details in this paper.

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