Rudenskaya G E, Shestopalova E A, Kadnikova V A, Shchagina O A
Research Centre for Medical Genetics, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(3):117-120. doi: 10.17116/jnevro2022122031117.
A case of spastic paraplegia type 4 (SPG4) due to p.Arg499His mutation in a child, aged 2 years 8 months, is presented. The differences of this first Russian case with the mutation and of a number of reported cases from typical SPG4 are very early onset, severe disabling spasticity and additional signs, cognitive disturbances in particular; mutations are also infrequent. Specific patterns point to the relationship between genotype and phenotype. Methods of exome sequencing are particularly informative in atypical cases difficult for clinical diagnostics.
本文报告了一例2岁8个月儿童因p.Arg499His突变导致的4型痉挛性截瘫（SPG4）病例。该首例俄罗斯突变病例与许多典型SPG4报告病例的不同之处在于发病极早、严重致残性痉挛以及其他体征，尤其是认知障碍；突变也不常见。特定模式表明了基因型与表型之间的关系。外显子组测序方法在临床诊断困难的非典型病例中特别有用。
