Patel Heema, Cross Harold, Proukakis Christos, Hershberger Ruth, Bork Peer, Ciccarelli Francesca D, Patton Michael A, McKusick Victor A, Crosby Andrew H
Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.
Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22.
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
特罗耶综合征（TRS）是一种常染色体隐性复杂遗传性痉挛性截瘫（HSP），在旧秩序阿米什人群中高发。我们报告了将TRS基因座定位到13号染色体q12.3，并在编码斯巴丁的SPG20中鉴定出一个移码突变。比较序列分析表明，斯巴丁与参与内体运输的分子以及与痉挛蛋白具有相似性，痉挛蛋白是一种与微管相互作用有关的分子，在HSP中通常发生突变。
