PDF(Pubmed)
Abstract：
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands. Genetic testing revealed a novel heterozygous likely pathogenic SPAST variant c. 1643A>T p.(Asp548Val), confirming the diagnosis of hereditary spastic paraparesis. Symptomatic treatment with physiotherapy and antispasmodic therapy was initiated. This is the first study reporting a patient with this SPAST variant. Ensembl variant effect predictor was used, with the application of computational variant prediction tools providing support that the variant we have identified is likely deleterious and damaging. Our variant CADD score was high, indicating that our identified variant was a highly deleterious substitution.
摘要：
一名30多岁的男子因右侧感觉异常而被转诊为神经病学，震颤,胸痛和下尿路和勃起功能障碍。他有左髋臼发育不良病史,和主观记忆障碍，后者是在使用阿片类药物的抑郁症和慢性疼痛的背景下。没有明显的家族史。在检查中，他患了痉挛性轻瘫.影像学显示胸椎萎缩。腰椎穿刺显示蛋白质升高，但其他成分正常，包括不存在寡克隆带。遗传检测揭示了一种新的杂合的可能致病性SPAST变体c。1643A>Tp。（Asp548Val），诊断为遗传性痉挛性轻瘫。开始进行物理疗法和抗痉挛疗法的对症治疗。这是首次报道具有这种SPAST变体的患者的研究。使用Ensembl变异效应预测因子，随着计算变异预测工具的应用，我们已经确定的变异可能是有害的和破坏性的。我们的变种CADD得分很高，表明我们确定的变体是高度有害的替代。
