title: A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia.
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.
authors.affiliation: Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK. chris.douglass@sth.nhs.uk
authors.forename: C
authors.initials: C
authors.lastname: Douglass
authors.forename: K
authors.initials: K
authors.lastname: Suvarna
authors.forename: M M
authors.initials: MM
authors.lastname: Reilly
authors.forename: P N
authors.initials: PN
authors.lastname: Hawkins
authors.forename: M
authors.initials: M
authors.lastname: Hadjivassiliou
mesh_terms: D000328:Adult; D001259:Ataxia / Q000209:etiology* / Q000473:pathology; D003704:Dementia / Q000235:genetics; D003863:Depression / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006261:Headache / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D010507:Periodicity; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin