PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary spastic paraplegia (SPG) is a genetically and clinically heterogeneous group of rare neurodegenerative disorders. SPG45 is the AR inherited type of complicated SPG, which is due to a mutation in the NT5C2 gene.
UNASSIGNED: Two sisters, aged 8 and 4, exhibited delayed motor development since early childhood. They also experienced learning difficulties, dysarthric speech, ataxia, nystagmus, strabismus, and spasticity in their extremities. Additionally, brisk deep tendon reflexes were observed in their upper and lower limbs, and they exhibited positive pathological reflexes. Whole-exome sequencing identified a previously unidentified homozygous mutation in the NT5C2 gene, leading to the diagnosis of SPG45 in both siblings. A mutation in the RYR1 gene associated with malignant hyperthermia was also detected in one of the siblings, necessitating ongoing monitoring.
UNASSIGNED: To the best of our knowledge, we report the first case of a patient with coexistence of the NT5C2 gene and the RYR1 gene.
UNASSIGNED: Two sisters, aged 8 and 4, exhibited delayed motor development since early childhood. They also experienced learning difficulties, dysarthric speech, ataxia, nystagmus, strabismus, and spasticity in their extremities. Additionally, brisk deep tendon reflexes were observed in their upper and lower limbs, and they exhibited positive pathological reflexes. Whole-exome sequencing identified a previously unidentified homozygous mutation in the NT5C2 gene, leading to the diagnosis of SPG45 in both siblings. A mutation in the RYR1 gene associated with malignant hyperthermia was also detected in one of the siblings, necessitating ongoing monitoring.
UNASSIGNED: To the best of our knowledge, we report the first case of a patient with coexistence of the NT5C2 gene and the RYR1 gene.
摘要：
■遗传性痉挛性截瘫（SPG）是一组遗传和临床异质性的罕见神经退行性疾病。SPG45是复杂SPG的AR继承类型，这是由于NT5C2基因的突变。
■两个姐妹,8岁和4岁，自儿童早期以来表现出延迟的运动发育。他们也经历了学习上的困难，构音障碍的演讲，共济失调,眼球震颤,斜视,四肢痉挛.此外,在他们的上肢和下肢观察到轻快的深肌腱反射，他们表现出阳性的病理反射。全外显子组测序在NT5C2基因中发现了一个以前未发现的纯合突变，导致两个兄弟姐妹的SPG45诊断。在其中一个兄弟姐妹中也检测到与恶性高热相关的RYR1基因突变，需要不断监测。
■据我们所知,我们报告了第一例NT5C2基因和RYR1基因共存的患者。
■两个姐妹,8岁和4岁，自儿童早期以来表现出延迟的运动发育。他们也经历了学习上的困难，构音障碍的演讲，共济失调,眼球震颤,斜视,四肢痉挛.此外,在他们的上肢和下肢观察到轻快的深肌腱反射，他们表现出阳性的病理反射。全外显子组测序在NT5C2基因中发现了一个以前未发现的纯合突变，导致两个兄弟姐妹的SPG45诊断。在其中一个兄弟姐妹中也检测到与恶性高热相关的RYR1基因突变，需要不断监测。
■据我们所知,我们报告了第一例NT5C2基因和RYR1基因共存的患者。
