Finsterer Josef, Burgunder Jean-Marc
Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria.
Department of Neurology, University of Bern, Inselspital, CH-3010 Bern, Switzerland.
Eur J Med Genet. 2014 Feb;57(2-3):103-12. doi: 10.1016/j.ejmg.2014.01.002. Epub 2014 Feb 4.
Genetic background and pathogenesis of motor neuron diseases (MNDs) have been increasingly elucidated over recent years.
To give an overview about publications during the last year concerning the genetic background and phenotypic manifestations of MNDs, such as familial or sporadic amyotrophic lateral sclerosis (fALS, sALS), spinal muscular atrophies (SMA), bulbospinal muscular atrophy (BSMA), and unclassified MNDs.
Pubmed search for literature about ALS, SMA, and BSMA for the period 10/2012 to 9/2013.
An increasing number of mutated genes is recognised in fALS but also sALS patients. Genes mutated in sALS include C9orf72, SOD1, TARDBP, FUS, UBQL2, SQSTM1, DCTN1, and UNC13A. Juvenile (onset <20y) and adult ALS (early onset 20-60y, late onset >60y) are differentiated. Juvenile fALS is most frequently caused by mutations in ALS2, SETX, spatacsin, or Sigmar1 and adult fALS by mutations in C9orf72, SOD1, TARDBP, and FUS. Onset, phenotype, progression, and outcome of ALS are variable between different mutations, different genes, and different countries. Differentiation between sALS and fALS cases becomes artificial.
Further progress has been made over the last year in the clarification and understanding of the aetiology and pathogenesis of MNDs. However, further effort is needed to answer the many remaining questions.
近年来，运动神经元病（MNDs）的遗传背景和发病机制已得到越来越多的阐明。
综述去年有关MNDs遗传背景和表型表现的文献，如家族性或散发性肌萎缩侧索硬化（fALS、sALS）、脊髓性肌萎缩症（SMA）、延髓脊髓性肌萎缩症（BSMA）以及未分类的MNDs。
在Pubmed上检索2012年10月至2013年9月期间关于ALS、SMA和BSMA的文献。
在fALS患者中以及在sALS患者中都发现了越来越多的突变基因。sALS中发生突变的基因包括C9orf72、SOD1、TARDBP、FUS、UBQL2、SQSTM1、DCTN1和UNC13A。区分了青少年型（发病年龄<20岁）和成人型ALS（早发型20 - 60岁，晚发型>60岁）。青少年型fALS最常见的病因是ALS2、SETX、spatacsin或Sigmar1基因的突变，而成人型fALS的病因是C9orf72、SOD1、TARDBP和FUS基因的突变。不同突变、不同基因以及不同国家之间，ALS的发病、表型、进展和预后存在差异。sALS和fALS病例之间的区分变得不那么自然。
去年在阐明和理解MNDs的病因和发病机制方面取得了进一步进展。然而，仍需要进一步努力来回答许多遗留问题。
