Hereditary spastic paraplegias: an update
Hereditary spastic paraplegias: an update
复制标题
DOI：
10.1097/wco.0b013e3282f190ba
复制
发表时间：
2007-12-01
影响因子：
4.8
通讯作者：
Durr, Alexandra
中科院分区：
文献类型：
--
作者：
Depienne, Christel;Stevanin, Giovanni;Durr, Alexandra
综述目的\遗传性痉挛性截瘫是一组遗传异质性疾病。关于其疾病分类学和分子基础的最新进展极大地改善了这些疾病的遗传诊断，并对遗传咨询产生了影响。然而，最近新基因和基因座的鉴定模糊了遗传性痉挛性截瘫与其他实体（如小脑共济失调或白质营养不良）之间的区别。脑MRI和痉挛性截瘫的每个患者的家族史是定向基因testing.Recent findingsFor SPG4，基因最常参与遗传性痉挛性截瘫，一种新的突变机制，这使得检测的最低临床元素的增加的情况下。在常染色体隐性形式中，最近鉴定的SPG11基因中的突变似乎占了胼胝体萎缩疾病的大多数复杂形式。此外，SACS基因与越来越多的各种起源的病例有关。概述基因检测越来越复杂，临床和其他有关表型的信息现在对于选择合适的基因检测至关重要每个病人的程序。
Purpose of review \ Hereditary spastic paraplegias are a genetically heterogeneous group of diseases. Recent advances concerning their nosology and molecular bases have greatly improved the genetic diagnosis of these diseases, with implications for genetic counselling. The recent identification of new genes and loci, however, has blurred the distinction between hereditary spastic paraplegias and other entities, such as cerebellar ataxias or leucodystrophies. Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing.Recent findingsFor SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus callosum, In addition, the SACS gene has been implicated in an increasing number of cases of various origins.SummaryGenetic testing is progressively more complex and clinical and other information concerning the phenotype is now crucial for choosing an appropriate genetic testing procedure for each patient.