Rudenskaya G E, Kadnikova V A, Ryzhkova O P
Research Centre for Medical Genetics, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(2):94-104. doi: 10.17116/jnevro201911902194.
A group of hereditary spastic paraplegias includes about 80 spastic paraplegia genes (SPG): forms with identified (almost 70) or only mapped (about 10) genes. Methods of next generation sequencing (NGS), along with new SPG discovering, modify knowledge about earlier delineated SPG. Clinical and genetic characteristics of common autosomal dominant (SPG4, SPG3, SPG31) and autosomal recessive (SPG11, SPG7, SPG15) forms are presented.
一组遗传性痉挛性截瘫包括约80个痉挛性截瘫基因（SPG）：已鉴定出基因的类型（近70个）或仅定位了基因的类型（约10个）。新一代测序（NGS）方法，在发现新的SPG的同时，也改变了我们对早期确定的SPG的认识。文中介绍了常见常染色体显性（SPG4、SPG3、SPG31）和常染色体隐性（SPG11、SPG7、SPG15）类型的临床和遗传特征。
