title: An autopsy case of leptomeningeal amyloidosis associated with transthyretin Gly47Arg mutation.
abstract: We report the case of a 47-year-old woman with a 4-year history of progressive numbness in the distal portions of both her lower limbs, diarrhea alternating with periods of constipation, and orthostatic syncope. She demonstrated sensory dominant neuropathy and dysautonomia including orthostatic hypotension, paralytic ileus, and urinary retention. A systemic mutation analysis revealed a G47R mutation in transthyretin (TTR). Her general condition was so poor that we could not perform active treatment. Her consciousness had been impaired for a few months. She died at the age of 47 due to multiple organ failure. An autopsy revealed amyloid deposits in the subarachnoid space of the brainstem and the spinal cord as well as in the peripheral nerve and other organs. To date, this is the first case in which a G47R mutation is associated with leptomeningeal amyloidosis.
authors: Department of Neurology, Higashiosaka City General Hospital.
authors: Takuya
authors: T
authors: Uehara
authors: Keita
authors: K
authors: Kakuda
authors: Hisae
authors: H
authors: Sumi-Akamaru
authors: Amane
authors: A
authors: Yamauchi
authors: Hideki
authors: H
authors: Mochizuki
authors: Takashi
authors: T
authors: Naka
mesh_terms: D000682:Amyloid / Q000378:metabolism; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000473:pathology*; D001344:Autopsy; D001933:Brain Stem / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D011228:Prealbumin / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D013346:Subarachnoid Space / Q000473:pathology
chemical_list: D000682:Amyloid; D011228:Prealbumin