Scholarlink

<p>Friedreich’s ataxia is the most common hereditary ataxia globally, most often caused by a&#xa0;homozygous GAA repeat expansion in the <i>FXN</i> gene, leading to a&#xa0;deficiency in the mitochondrial protein frataxin. It primarily affects the peripheral nerves, dorsal columns of the spinal cord and cerebellum, as well as the heart, skeleton, and pancreas. Friedreich’s ataxia typically presents in adolescents with progressive ataxia, although onset can be variable, ranging from early childhood to late adulthood. In addition, a&#xa0;multitude of extraneural features are frequently present, including cardiomyopathy, scoliosis, and diabetes. Mean life expectancy is 35–40&#xa0;years. Treatment is largely supportive, comprising physiotherapy, occupational therapy, speech and language therapy, and rehabilitation. Recently, omaveloxolone, the first medication for Friedreich’s ataxia, was approved by the European Commission.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Friedreich-Ataxie – eine Multisystemerkrankung

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月4日

查看全文
  • S. A. Lischewski,
  • R. Dadsena,
  • I. Dogan,
  • J. B. Schulz,
  • K. Reetz

摘要

Friedreich’s ataxia is the most common hereditary ataxia globally, most often caused by a homozygous GAA repeat expansion in the FXN gene, leading to a deficiency in the mitochondrial protein frataxin. It primarily affects the peripheral nerves, dorsal columns of the spinal cord and cerebellum, as well as the heart, skeleton, and pancreas. Friedreich’s ataxia typically presents in adolescents with progressive ataxia, although onset can be variable, ranging from early childhood to late adulthood. In addition, a multitude of extraneural features are frequently present, including cardiomyopathy, scoliosis, and diabetes. Mean life expectancy is 35–40 years. Treatment is largely supportive, comprising physiotherapy, occupational therapy, speech and language therapy, and rehabilitation. Recently, omaveloxolone, the first medication for Friedreich’s ataxia, was approved by the European Commission.