Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Université de Montréal, Department of Pathology and Cellular Biology, Montreal, Quebec, Canada.
Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Exp Cell Res. 2014 Jul 1;325(1):18-26. doi: 10.1016/j.yexcr.2014.02.021. Epub 2014 Mar 11.
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower limbs spasticity and weakness. What was first thought to be a small group of rare Mendelian disorder has now become a large group that includes many complex syndromes. While large families with defined modes of inheritance were used for the initial HSP gene discovery, new sequencing technologies have recently allowed the study of small families, with the identification of many new disease causative genes. These discoveries are slowly leading to a better understanding of the molecular mechanisms underlying HSP with the identification of precise disease pathways. These insights may lead to new therapeutic strategies for what is a group of largely untreatable diseases. This review looks at the key players involved in HSP and where they act in their specific pathways.
遗传性痉挛性截瘫（HSP）是一组具有临床和遗传异质性的神经退行性疾病，其特征为进行性下肢痉挛和无力。最初被认为是一小部分罕见的孟德尔疾病，现在已经成为一大类疾病，包括许多复杂的综合征。虽然大的具有明确遗传方式的家族被用于 HSP 的最初基因发现，但最近的新测序技术允许对小的家族进行研究，从而确定了许多新的疾病致病基因。这些发现正在慢慢深入了解 HSP 的分子机制，确定精确的疾病途径。这些见解可能为一大类基本上无法治疗的疾病带来新的治疗策略。本综述探讨了 HSP 中的关键参与者及其在特定途径中的作用。
