A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia.
case_report · Level V
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- Record sourced from PubMed, PMID 16971399.
- Also identified by PMC identifier 2077663.
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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 extra-cardiac sites, but magnetic resonance imaging indicated diffuse leptomeningeal amyloidosis.
Medical subject headings
- Ataxia
- Genetic Variation
- Headache
- Prealbumin