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Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.

Vincenzo Di StefanoAntonino LupicaPaolo AlongeAntonia PignoloSofia Maria AugelloFrancesca GentileAndrea GagliardoFrancesca GigliaDaniele BrinchMaria CappelloDaniela Di LisiGiuseppina NovoEugenia BorgioneCarmela ScuderiFilippo Brighina
Published in: European journal of neurology (2023)
A systematic screening for ATTRv-PN yielded an increased recognition of the disease in our neurological clinic. Unexplained weight loss associated with axonal polyneuropathy had the highest predictive value in the guidance of clinical suspicion. A focused approach for the screening of ATTRv-PN could lead to an earlier diagnosis and identification of asymptomatic carriers, who will be promptly treated after a strict follow-up at the clinical onset.
Keyphrases
  • weight loss
  • primary care
  • genome wide
  • roux en y gastric bypass
  • copy number
  • adipose tissue
  • cerebral ischemia
  • multiple myeloma
  • newly diagnosed
  • insulin resistance
  • blood brain barrier
  • wild type