Abstract：
Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Various ophthalmological findings including optic atrophy, ophthalmoplegia, or nystagmus have been reported in patients with spastic paraplegia type 7. We report a 15-year-old male patient with a novel heterozygous variant, c.1224T>G:p.(Asp408Glu) in SPG7 (NM_003119.3) causing early onset isolated optic atrophy and infantile nystagmus prior to the onset of neurological symptoms. Therefore, SPG7 should be considered a cause of infantile nystagmus with optic atrophy.
摘要：
痉挛性截瘫是一种神经退行性疾病，其特征是由于皮质脊髓轴突变性而导致的进行性腿部无力和痉挛。SPG7编码截瘫，基因中的致病变异导致遗传性痉挛性截瘫是一种常染色体隐性性状。各种眼科发现，包括视神经萎缩，眼肌麻痹,或眼球震颤已在7型痉挛性截瘫患者中报道。我们报告了一名15岁的男性患者，患有一种新的杂合变异体，c.1224T>G：p。SPG7（NM_003119.3）中的（Asp408Glu）在神经症状发作之前引起早期发作的孤立性视神经萎缩和婴儿眼球震颤。因此,SPG7应被认为是婴儿眼球震颤伴视神经萎缩的原因。
