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Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.

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  • معلومة اضافية
    • المصدر:
      Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE
    • بيانات النشر:
      Publication: <2010->: Hoboken, NJ Wiley
      Original Publication: New York, NY : Woodland Publications, c1996-
    • الموضوع:
      Family Health*; Amyloid Neuropathies, Familial/*genetics ; Genetic Predisposition to Disease/*genetics ; Mutation/*genetics ; Prealbumin/*genetics; Adult ; Asian People/genetics ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Neural Conduction/genetics
    • نبذة مختصرة :
      Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p.Tyr136Ser), and Ala36Pro(p.Ala56Pro) from six affected patients and two asymptomatic individuals. Two mutations, Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time. All affected patients manifested a progressive sensorimotor polyneuropathy starting in the lower limbs. The majority of the examined patients displayed cardiomyopathy and vitreous opacities. To avoid misdiagnosis, clinicians should consider screening for TTR variants in patients presenting with progressive polyneuropathy of undetermined origins.
      (© 2016 Peripheral Nerve Society.)
    • Contributed Indexing:
      Keywords: Chinese; TTR; cardiomyopathy; sensorimotor polyneuropathy; vitreous opacities
    • الرقم المعرف:
      0 (Prealbumin)
    • الموضوع:
      Date Created: 20161119 Date Completed: 20180220 Latest Revision: 20221207
    • الموضوع:
      20240829
    • الرقم المعرف:
      10.1111/jns.12196
    • الرقم المعرف:
      27859927