Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA.
Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA.
Trends Mol Med. 2021 Jun;27(6):520-523. doi: 10.1016/j.molmed.2021.02.004. Epub 2021 Mar 10.
De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effective treatment. Recombinant adeno-associated virus (AAV)-mediated gene therapy has emerged as a powerful treatment for monogenic diseases and might be particularly suitable for these neurological conditions.
从头糖脂（GSL）生物合成缺陷可引起严重的神经疾病，包括遗传性感觉和自主神经病 1A 型（HSAN1A）、GM3 合酶缺乏症和遗传性痉挛性截瘫 26 型（HSPG26），这些疾病目前均缺乏有效治疗方法。重组腺相关病毒（AAV）介导的基因治疗已成为单基因疾病的一种有效治疗方法，可能特别适用于这些神经疾病。
