Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage.

@article{Sakashita2001FamilialAP,
  title={Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage.},
  author={Naomi Sakashita and Yukio Ando and Kiyo Jinnouchi and Misako Yoshimatsu and Hisayasu Terazaki and Konen Obayashi and Motohiro Takeya},
  journal={Pathology international},
  year={2001},
  volume={51 6},
  pages={476-80}
}
We report an autopsy case of familial amyloidotic polyneuropathy (FAP) with cerebral hemorrhage. A 38-year-old woman with a typical FAP pedigree started developing severe diarrhea and sensori-motor polyneuropathy at the age of 28 years; autonomic nervous system, heart and renal dysfunction manifested themselves in the following years. Genetic analysis revealed a single amino acid substitution at codon 30 of transthyretin (ATTR Val30Met). Ten years after her initial symptoms, the patient died of… CONTINUE READING
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