神经源性关节挛缩症和表型分析的威力。

Neurogenic arthrogryposis and the power of phenotyping.

机构信息

Department of Neuromuscular Disease, Queen Square, UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London WC1N 3BG, England.

出版信息

Neuromuscul Disord. 2021 Oct;31(10):1062-1069. doi: 10.1016/j.nmd.2021.07.399. Epub 2021 Oct 9.

DOI:10.1016/j.nmd.2021.07.399

PMID:34736627

Abstract

In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of this disorder and how this has facilitated the identification of the genetic cause of SMALED2. We also review the similarities and differences between the human SMALED phenotype and mouse models and how this has informed our understanding of the potential mechanisms governing motor neuron loss in these disorders.

摘要

在本文中，我们回顾了最常见的神经源性关节挛缩症的原因，称为脊髓性肌萎缩下肢优势型（SMALED），这是由于 DYNC1H1 和 BICD2 变异引起的。我们讨论了这种疾病的特征性临床和影像学表型，以及这如何促进了 SMALED2 的遗传原因的确定。我们还回顾了人类 SMALED 表型和小鼠模型之间的相似之处和差异，以及这如何使我们更好地理解这些疾病中运动神经元丧失的潜在机制。