Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France; Institute of Medical Genetics, Policlinico A. Gemelli, Rome, Italy.
Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France.
Trends Genet. 2015 May;31(5):263-73. doi: 10.1016/j.tig.2015.03.005. Epub 2015 Apr 10.
Several genetic causes have been recently described for neurological diseases, increasing our knowledge of the common pathological mechanisms involved in these disorders. Mutation analysis has shown common causative factors for two major neurodegenerative disorders, ALS and FTD. Shared pathological and genetic markers as well as common neurological signs between these diseases have given rise to the notion of an ALS/FTD spectrum. This overlap among genetic factors causing ALS/FTD and the coincidence of mutated alleles (including causative, risk and modifier variants) have given rise to the notion of an oligogenic model of disease. In this review we summarize major advances in the elucidation of novel genetic factors in these diseases which have led to a better understanding of the common pathogenic factors leading to neurodegeneration.
最近已经描述了一些导致神经疾病的遗传原因，这增加了我们对这些疾病中涉及的常见病理机制的了解。突变分析表明，两种主要的神经退行性疾病 ALS 和 FTD 有共同的致病因素。这些疾病之间共同的病理和遗传标记以及共同的神经症状导致了 ALS/FTD 谱的概念。导致 ALS/FTD 的遗传因素之间的重叠以及突变等位基因（包括致病、风险和修饰变体）的巧合，导致了疾病的寡基因模型的概念。在这篇综述中，我们总结了在这些疾病中阐明新的遗传因素方面的主要进展，这些进展使我们更好地理解导致神经退行性变的常见致病因素。
