Department of Molecular Neurosciences and MRC Centre for Neuromuscular Diseases, UCL-Institute of Neurology, Queen Square, London, UK.
J Clin Neurol. 2011 Jun;7(2):102-4. doi: 10.3988/jcn.2011.7.2.102. Epub 2011 Jun 28.
Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature.
Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of spasticity, ataxia, and cognitive impairment. The clinical severity and the degree of corpus callosum and cerebellar atrophy varied among the four affected individuals in the family. Genetic testing of the affected members revealed recessive mutations in the spatacsin gene, consistent with a diagnosis of SPG11.
We believe that the extent of corpus callosum thinning and cerebellar atrophy is correlated with disease severity in affected patients. The addition of extrapyramidal features in the most-affected members suggests that SPG11 exhibits considerable phenotypic heterogeneity.
编码 spastacsin 基因的突变与痉挛性截瘫 11 型（SPG11）有关，这是常染色体隐性遗传性痉挛性截瘫的最常见原因。尽管 SPG11 具有多种表型，但胼胝体变薄是一个重要特征。
在印度北部古吉拉特邦的一个有遗传性痉挛性截瘫的大家庭中进行了临床、遗传和影像学评估，受影响的成员表现出不同程度的痉挛、共济失调和认知障碍。家族中 4 名受影响个体的临床严重程度和胼胝体及小脑萎缩程度各不相同。对受影响成员的基因检测显示 spastacsin 基因存在隐性突变，符合 SPG11 的诊断。
我们认为胼胝体变薄和小脑萎缩的程度与受影响患者的疾病严重程度相关。受影响的最严重成员出现锥体外系特征表明 SPG11 表现出相当大的表型异质性。
