遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）是一组具有高度临床特征和遗传异质性的神经系统变性疾病，分为单纯型及复杂型。遗传性痉挛性截瘫伴胼胝体发育不良（hereditary spastic paraplegia with thin corpus callosum...遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）是一组具有高度临床特征和遗传异质性的神经系统变性疾病，分为单纯型及复杂型。遗传性痉挛性截瘫伴胼胝体发育不良（hereditary spastic paraplegia with thin corpus callosum，HSP-TCC）属于复杂型HSP，在临床上极为罕见，至今国内外只报道了20余个家系。展开更多
Mutations in the SPG3A gene cause a form of pure, earlyonset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of...Mutations in the SPG3A gene cause a form of pure, earlyonset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.展开更多
Background: Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts f or approximately 10%to 15%of all autosomal dominant heredi...Background: Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts f or approximately 10%to 15%of all autosomal dominant hereditary spastic paraple gia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. Objective: To describe a kindred wit h an infantile onset of hereditary spastic paraplegia caused by a novel mutation in the SPG3A gene. Patients: Complete neurological examination and genetic anal ysis were performed on 6 affected members of a small African American kindred. L inkage analysis to genetic markers near autosomal dominant hereditary spastic pa raplegia loci on chromosomes 2p and 14q was performed. The coding sequence of th e SPG3A gene was analyzed, and the identified change in the sequence was tested for being a benign polymorphism by sequencing 200 chromosomes from normal contro ls. Results: Every affected individual had signs of uncomplicated spastic parapa resis without additional neurological abnormalities. None of the affected family members had ever walked normally. The history was consistent with an infantile onset, despite the normal acquisition of motor milestones. Genetic analysis sugg ested linkage to the SPG3A locus on chromosome 14q. Analysis of the SPG3A gene r evealed a missense mutation C635T, predicted to result in a threonine to isoleuc ine substitution at codon 156. Analysis of 200 normal chromosomes did not identi fy the same change in healthy subjects. Conclusion: We report a novel muta tion in the SPG3A gene in an African American family with an infantile onset of auto somal dominant hereditary spastic paraplegia.展开更多
目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测...目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测,确定基因突变位点,分析基因型与表型的关系。结果本家系先证者临床符合SPG2诊断。测序结果显示先证者PLP1基因第3外显子c.388C>T(p.His130Tyr)半合子改变,先证者之母为本位点的杂合改变。结论本家系SPG2先证者为PLP1基因半合子突变致病,遗传自表型正常携带者的母亲。本研究明确了本家系PLP1基因突变与遗传特征,为准确的遗传咨询和进一步的产前诊断打下了基础。展开更多
文摘遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）是一组具有高度临床特征和遗传异质性的神经系统变性疾病，分为单纯型及复杂型。遗传性痉挛性截瘫伴胼胝体发育不良（hereditary spastic paraplegia with thin corpus callosum，HSP-TCC）属于复杂型HSP，在临床上极为罕见，至今国内外只报道了20余个家系。
文摘Mutations in the SPG3A gene cause a form of pure, earlyonset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.
文摘Background: Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts f or approximately 10%to 15%of all autosomal dominant hereditary spastic paraple gia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. Objective: To describe a kindred wit h an infantile onset of hereditary spastic paraplegia caused by a novel mutation in the SPG3A gene. Patients: Complete neurological examination and genetic anal ysis were performed on 6 affected members of a small African American kindred. L inkage analysis to genetic markers near autosomal dominant hereditary spastic pa raplegia loci on chromosomes 2p and 14q was performed. The coding sequence of th e SPG3A gene was analyzed, and the identified change in the sequence was tested for being a benign polymorphism by sequencing 200 chromosomes from normal contro ls. Results: Every affected individual had signs of uncomplicated spastic parapa resis without additional neurological abnormalities. None of the affected family members had ever walked normally. The history was consistent with an infantile onset, despite the normal acquisition of motor milestones. Genetic analysis sugg ested linkage to the SPG3A locus on chromosome 14q. Analysis of the SPG3A gene r evealed a missense mutation C635T, predicted to result in a threonine to isoleuc ine substitution at codon 156. Analysis of 200 normal chromosomes did not identi fy the same change in healthy subjects. Conclusion: We report a novel muta tion in the SPG3A gene in an African American family with an infantile onset of auto somal dominant hereditary spastic paraplegia.
文摘目的分析并确定一个遗传性痉挛性截瘫2型(spastic paraplegia 2,SPG2)家系蛋白脂蛋白1(proteolipid protein 1,PLP1)基因突变与遗传学特征。方法收集先证者及其家系成员临床资料,采用聚合酶链反应和DNA直接测序方法进行PLP1基因突变检测,确定基因突变位点,分析基因型与表型的关系。结果本家系先证者临床符合SPG2诊断。测序结果显示先证者PLP1基因第3外显子c.388C>T(p.His130Tyr)半合子改变,先证者之母为本位点的杂合改变。结论本家系SPG2先证者为PLP1基因半合子突变致病,遗传自表型正常携带者的母亲。本研究明确了本家系PLP1基因突变与遗传特征,为准确的遗传咨询和进一步的产前诊断打下了基础。
