The role of genetic counseling and presymptomatic diagnosis in Huntington's disease : Case study in a university hospital

DOI
  • Chang Hyangri
    Department of Genomic Medicine, The University of Tokyo Hospital
  • Ishiura Hiroyuki
    Department of Genomic Medicine, The University of Tokyo Hospital Department of Neurology, The University of Tokyo Hospital
  • Toda Tatsushi
    Department of Genomic Medicine, The University of Tokyo Hospital Department of Neurology, The University of Tokyo Hospital

Bibliographic Information

Other Title
  • 遺伝カウンセリングの役割とHuntington病の発症前診断―当院での事例から

Abstract

<p>With the development of genomic medicine, genetic testing has been implemented in various areas of medical practice in Japan. For intractable hereditary neurological diseases like Huntington's disease, genetic counseling has played a pivotal role for the patient's relatives because of the possibility of future disease onset. In this article, we present a case of presymptomatic diagnosis of Huntington's disease at our hospital and explain the nature and role of genetic counseling to help clients make better choices.</p>

Journal

Details 詳細情報について

  • CRID
    1390857512441357440
  • DOI
    10.15082/jsnt.39.4_484
  • ISSN
    21897824
    09168443
  • Text Lang
    ja
  • Data Source
    • JaLC
  • Abstract License Flag
    Disallowed

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