PDF(Pubmed)
Abstract：
OBJECTIVE: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.
METHODS: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A targeted whole exome gene sequencing panel for optic neuropathy identified a novel homozygous variant in the SPG7 gene, c.2T > G, p.(Met?), which likely abolished production of paraplegin, an inner mitochondrial membrane protein. Subsequent neurologic examination revealed subtle signs of spastic paraplegia and ataxia in keeping with the genetic diagnosis of SPG7.
CONCLUSIONS: Spastic paraplegia 7 (SPG7) is an autosomal recessive form of the neurodegenerative disorder HSP. Pure HSP is characterized by spastic paraparesis in the lower limbs, whereas complicated HSP presents additional neurological manifestations. This case report adds to the evidence that SPG7 can present with childhood optic nerve atrophy, preceding the characteristic SPG7 manifestations. SPG7 should be considered in the workup of suspected hereditary optic neuropathy.
METHODS: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A targeted whole exome gene sequencing panel for optic neuropathy identified a novel homozygous variant in the SPG7 gene, c.2T > G, p.(Met?), which likely abolished production of paraplegin, an inner mitochondrial membrane protein. Subsequent neurologic examination revealed subtle signs of spastic paraplegia and ataxia in keeping with the genetic diagnosis of SPG7.
CONCLUSIONS: Spastic paraplegia 7 (SPG7) is an autosomal recessive form of the neurodegenerative disorder HSP. Pure HSP is characterized by spastic paraparesis in the lower limbs, whereas complicated HSP presents additional neurological manifestations. This case report adds to the evidence that SPG7 can present with childhood optic nerve atrophy, preceding the characteristic SPG7 manifestations. SPG7 should be considered in the workup of suspected hereditary optic neuropathy.
摘要：
目的：描述一例表现为儿童视神经萎缩的遗传性痉挛性共济失调（HSP），并报道SPG7基因中的一个新的纯合变体。
方法：一名57岁的男性，从小就患有进行性视神经萎缩，最终接受了基因检测。针对视神经病变的靶向全外显子组基因测序小组鉴定了SPG7基因中的新型纯合变体，c.2T>G，P.（Met？），这可能会废除截瘫的生产，线粒体内膜蛋白.随后的神经系统检查显示，痉挛型截瘫和共济失调的细微迹象与SPG7的遗传诊断一致。
结论：痉挛型截瘫7（SPG7）是神经退行性疾病HSP的常染色体隐性遗传形式。纯HSP的特征是下肢痉挛性轻瘫，而复杂的HSP表现为额外的神经系统表现。此病例报告增加了SPG7可以表现为儿童视神经萎缩的证据，在特征性SPG7表现之前。在疑似遗传性视神经病变的检查中应考虑SPG7。
方法：一名57岁的男性，从小就患有进行性视神经萎缩，最终接受了基因检测。针对视神经病变的靶向全外显子组基因测序小组鉴定了SPG7基因中的新型纯合变体，c.2T>G，P.（Met？），这可能会废除截瘫的生产，线粒体内膜蛋白.随后的神经系统检查显示，痉挛型截瘫和共济失调的细微迹象与SPG7的遗传诊断一致。
结论：痉挛型截瘫7（SPG7）是神经退行性疾病HSP的常染色体隐性遗传形式。纯HSP的特征是下肢痉挛性轻瘫，而复杂的HSP表现为额外的神经系统表现。此病例报告增加了SPG7可以表现为儿童视神经萎缩的证据，在特征性SPG7表现之前。在疑似遗传性视神经病变的检查中应考虑SPG7。
