Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.

@article{Koike2011DiagnosisOS,
  title={Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.},
  author={Haruki Koike and Rina Hashimoto and Minoru Tomita and Yuichi Kawagashira and Masahiro Iijima and Fumiaki Tanaka and Gen Sobue},
  journal={Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis},
  year={2011},
  volume={18 2},
  pages={53-62}
}
Transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and is now prevalent in areas other than those seen within conventional endemic foci. We investigated 15 patients with FAP ATTR Val30Met without a family history of FAP who were referred for sural nerve biopsy. Initial symptoms included somatic neuropathy in all patients, while sensory dissociation and autonomic symptoms were apparent only in two and seven patients… CONTINUE READING
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